morphine and Cystic-Fibrosis

Meconium ileus (MI) is one presenting manifestation of Cystic Fibrosis (CF), classically associated with class I-III CF transmembrane conductance regulator (CFTR) mutations and pancreatic insufficiency (PI). D1152H is a class IV mutation that corresponds with a milder CF phenotype and pancreatic sufficiency (PS). We present the case of an infant with G542X/D1152H mutations and MI who required surgical intervention with small bowel resection. The sweat testing was normal, and this child presently remains PS, however at age 5 continues to experience short gut syndrome and failure to thrive. Eight cases were identified in the CF Registry and seven cases in the literature describing patients with D1152H and echogenic bowel (EB) or MI. Our case highlights the importance of CFTR gene sequencing in infants with EB or MI and sweat testing not suggestive of CF. It is our practice to perform full CFTR gene sequencing for infants who present with MI, recognizing protocols for newborn screening across the United States vary. Increased awareness of D1152H association with PS may also well inform both prenatal and postnatal genetic counseling.

Topics: Child; Child, Preschool; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Female; Humans; Ileus; Infant; Infant, Newborn; Meconium; Meconium Ileus; Mutation; Phenotype; Pregnancy

Cystic fibrosis is an autosomal-recessive defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene located on chromosome 7 that affects 1 in 2500 live White births. Defects in the gene lead to abnormally thick secretions causing chronic obstruction in the respiratory and gastrointestinal tracts. Common gastrointestinal pathology in children with cystic fibrosis includes meconium ileus in infancy and distal intestinal obstruction syndrome in childhood and exocrine pancreatic insufficiency, constipation, and rectal prolapse. This article describes the presentation, diagnosis, and management of these conditions in patients with cystic fibrosis, from birth to adulthood.

Topics: Adult; Child; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Humans; Ileus; Infant, Newborn; Intestinal Obstruction; Meconium; Meconium Ileus

Concerns over reproducibility in research has reinvigorated the discourse on P-values as measures of statistical evidence. In a position statement by the American Statistical Association board of directors, they warn of P-value misuse and refer to the availability of alternatives. Despite the common practice of comparing P-values across different hypothesis tests in genetics, it is well-appreciated that P-values must be interpreted alongside the sample size and experimental design used for their computation. Here, we discuss the evidential statistical paradigm (EP), an alternative to Bayesian and Frequentist paradigms, that has been implemented in human genetics studies. Using applications in Cystic Fibrosis genetic association analyses, and describing recent theoretical developments, we review how to measure statistical evidence using the EP in the presence of covariates, model misspecification, and for composite hypotheses. Novel graphical displays are presented, and software for their computation is highlighted. The implications of multiple hypothesis testing for the EP are delineated in the analyses, demonstrating a view more consistent with scientific reasoning; the EP provides a theoretical justification for replication that is a requirement in genetic association studies. As genetic studies grow in size and complexity, a fresh look at measures of statistical evidence that are sensible amid the analysis of big data are required.

Topics: Antiporters; Bayes Theorem; Cystic Fibrosis; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Likelihood Functions; Meconium; Models, Genetic; Models, Statistical; Probability; Reproducibility of Results; Sample Size; Software; Sulfate Transporters

We present the case of an infant born with scrotoschisis and evidence of meconium periorchitis and peritonitis. A scrotal defect was noted with exposure of the left testis and spermatic cord. Meconium peritonitis and periorchitis were confirmed on operative exploration. Given the history, cystic fibrosis was suspected, but initial screening and diagnostic tests were negative.

Topics: Cystic Fibrosis; Diagnosis, Differential; Humans; Infant, Newborn; Intestinal Perforation; Male; Meconium; Orchiectomy; Orchitis; Peritonitis; Radiography, Abdominal; Scrotum; Testicular Diseases; Testis

The article reviews advances in gastrointestinal aspects of cystic fibrosis (CF) published in the literature over the past year, and highlights new and interesting research.. Animal models can be used to understand the pathophysiology of gastrointestinal complications in CF. The CF mouse is useful for studying distal intestinal obstruction, dysmotility and dysbiosis, and the CF pig model has helped us better understand meconium ileus and pancreatic and hepatobiliary secretory problems. Studies in humans help elucidate the evolution of pancreatic insufficiency, how reflux may lead to lung disease, problems with intestinal dysmotility, mechanisms leading to pancreatitis and the increased prevalence of gastrointestinal cancer. Biomarkers are shedding light on CF-related liver disease. Rectal biopsies can help in diagnosis and in studying new drugs for CF.. Gastrointestinal complications of CF are likely to be seen with increasing frequency as patients with CF lead longer lives. CF animal models and modern research techniques are providing new insights into extrapulmonary complications. CF clinicians should be familiar with diagnosis and management of common gastrointestinal complications and should build bridges with specialists so that referrals can be made when needed.

Topics: Animals; Cystic Fibrosis; Digestive System Diseases; Disease Models, Animal; Dysbiosis; Gastrointestinal Diseases; Humans; Ileus; Intestinal Obstruction; Liver Diseases; Meconium; Mice; Pancreatic Diseases; Prognosis; Rectum; Swine

Meconium ileus (MI) is the earliest clinical manifestation of cystic fibrosis (CF), occurring in up to 20% of patients with CF. Our aim was to review and integrate current knowledge about the diagnosis and management of fetuses and neonates with MI that may aid the pediatric surgeon in caring for these patients.. We identified areas of interest including pathophysiology, prenatal diagnosis, nonoperative and operative management, postoperative management, and prognosis. We performed a Medline search using the search term meconium ileus for English language articles published in the last 20 years. We reviewed reference lists to identify other articles of historical significance.. Meconium ileus is primarily associated with CF transmembrane (conductance) regulator mutations F508del, G542X, W1282X, R553X, and G551D, and modifier genes have been found to explain approximately 17% of the phenotypic variability. Mouse, pig, and ferret models for CF demonstrate neonatal bowel obstruction mimicking MI. Sonographic findings of hyperechoic masses and dilated bowel in a high-risk fetus are suggestive of MI. Less than 7% of low-risk fetuses with hyperechoic bowel will have MI. Contemporary series of noninvasive management with Gastrografin enema report success rates of 36% to 39%, significantly lower than historical values. The optimal surgical technique remains controversial, although primary anastomosis results in surgical complication rates between 21% and 31%, higher than those noted with delayed anastomosis. Pulmonary function for patients with CF and MI at 15 and 25 years old is similar to those without MI, although height and weight percentiles may be lower.. This review for pediatric surgeons presents an examination of the literature and synthesizes current information about the pathophysiology, prenatal diagnosis, nonoperative and operative management, postoperative management, and prognosis of the patient with CF and MI.

Topics: Amniocentesis; Anastomosis, Surgical; Colon; Colonic Diseases; Cystic Fibrosis; Enema; Female; Fetal Diseases; Humans; Ileus; Infant, Newborn; Meconium; Pregnancy; Prognosis; Ultrasonography, Prenatal

Meconium ileus at birth, distal intestinal obstruction syndrome (DIOS), and constipation are an interrelated group of intestinal obstruction syndromes with a variable severity of obstruction that occurs in cystic fibrosis patients. Long-term follow-up studies show that today meconium ileus is not a risk factor for impaired nutritional status, pulmonary function, or survival. DIOS and constipation are frequently seen in cystic fibrosis patients, especially later in life; genetic, dietary, and other associations have been explored. Diagnosis of DIOS is based on suggestive symptoms, with a right lower quadrant mass confirmed on abdominal radiography, whereas symptoms of constipation are milder and of longer standing. In DIOS, early aggressive laxative treatment with oral laxatives (polyethylene glycol) or intestinal lavage with balanced osmotic electrolyte solution and rehydration is required, which now makes the need for surgical interventions rare. Constipation can generally be well controlled with polyethylene glycol maintenance treatment.

Topics: Constipation; Cystic Fibrosis; Humans; Ileus; Intestinal Obstruction; Meconium; Risk Factors

Topics: Child; Cystic Fibrosis; Digestive System Surgical Procedures; Humans; Intestinal Obstruction; Meconium

To extend previous evaluations of costs of cystic fibrosis (CF) diagnosis and examine key issues in assessing the CF cost of care.. Costs for CF newborn screening (NBS) including CF multi-mutation testing are analyzed by using data from the Wisconsin State Laboratory of Hygiene. Electronic data from 2 Wisconsin CF centers are used to illustrate the complexity of analyzing CF health care utilization and costs.. The current cost-per-newborn of a CF multi-mutation test is 50% higher than testing for a single mutation. Data collection for the cost-of-care study requires a combination of electronic and manual data collection; modeling of cost data requires consideration of any censoring. Hospitalizations are shown to have a large impact on costs and show high variability at the individual level. Sixty-nine percent of children with meconium ileus had some hospitalization versus 56% of children without meconium ileus.. A cost-benefit analysis of CF multi-mutation testing is warranted. The study of health care cost data is complex and utilization varies between children. Individual-level modeling of CF costs must include factors contributing to the severity of the disease and allow for consideration of individual-level utilization, such as the number of hospitalizations.

Topics: Cost of Illness; Cost-Benefit Analysis; Cystic Fibrosis; DNA Mutational Analysis; Health Care Costs; Hospitalization; Hospitals, Pediatric; Hospitals, University; Humans; Ileus; Immunoassay; Infant, Newborn; Length of Stay; Meconium; Models, Econometric; Neonatal Screening; Severity of Illness Index; Wisconsin

Cystic fibrosis (CF) is an inherited disorder that presents as a multisystem disease with meconium ileus being the presenting symptom in 20% of patients. Approximately half of these patients present with complicated meconium ileus mandating early surgical intervention, potentially resulting in short gut syndrome. Although liver transplantation in children with CF has been described, this is the first report of a combined liver and small bowel transplant in a recipient with CF. A 7-month-old boy with CF presented with short bowel syndrome following extensive small bowel resection for meconium ileus and progressive cholestatic liver failure from intravenous hyperalimentation. He underwent combined liver and small intestinal transplant. He was discharged home three weeks post-transplant on enteral feeds with supplemental intravenous fluid. He has had routine protocol small bowel allograft biopsies with no documented rejection episodes. He has been treated for minor respiratory infections without major sequelae. Improvements in pulmonary therapy have impacted on the survival in the CF population to the point where the need for multiorgan transplantation will be increased in the future. Extrapolating from the excellent experience of liver transplantation in children with CF, early liver and small intestinal multivisceral transplantation, if indicated, can be performed safely in children with CF.

Topics: Cystic Fibrosis; Humans; Infant; Intestinal Obstruction; Intestine, Small; Liver Failure; Liver Transplantation; Male; Meconium; Short Bowel Syndrome

More than 1,000 mutations have been identified in the cystic fibrosis (CF) transmembrane regulator (CFTR) disease gene. The impact of these mutations on the protein and the wide spectrum of CF phenotypes prompted a series of Genotype-Phenotype correlation studies. The CFTR genotype is invariably correlated with pancreatic status-in about 85% of cases with pancreatic insufficiency and in about 15% of cases with pancreatic sufficiency. The correlations between the CFTR genotype and pulmonary, liver, and gastrointestinal expression are debatable. The heterogeneous phenotype in CF patients bearing the same genotype or homozygotes for nonsense mutations implicated environmental and/or genetic factors in the disease. However, the discordant phenotype observed in CF siblings argued against a major role of environmental factors and suggested that genes other than CFTR modulate the CF phenotype. A locus that modulates gastrointestinal expression was identified in mice and subsequently in humans. By analyzing nine CF patients discordant for meconium ileus we were able to show that this locus had a dominant effect. Moreover, in a collaborative study we found a higher rate of polymorphisms in beta-defensin genes 1 and 2 in CF patients and in controls. In another multicenter study mutations in alpha-1 antitrypsin (A1AT) and mannose binding lectin genes were found to be independent risk factors for liver disease in CF patients. The body of evidence available suggests that the variegated CF phenotype results from complex interactions between numerous gene products.

Topics: Animals; Codon, Nonsense; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Epistasis, Genetic; Gene Expression Regulation; Genetic Heterogeneity; Genotype; Humans; Intestinal Obstruction; Liver; Lung; Meconium; Mice; Mice, Inbred CFTR; Multifactorial Inheritance; Mutation; Organ Specificity; Pancreas; Phenotype; Polymorphism, Genetic

Topics: Animals; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Humans; Intestinal Obstruction; Meconium; Mice; Mutation; Pancreatic Diseases

Meconium ileus represents a functional disorder mainly detected during the second trimester of gestation. The diagnosis can be recognized by bowel hyperechogenicity or by the pathologist after a systematic examination. It must lead to etiologic diagnosis and specific investigations according to the history. Even in absence of family history, cystic fibrosis must be considered with pancreatic study and with frozen fetal material in order to be able to search for the most common mutations. Meconium ileus can also be associated with infection, fetal blood swallowing, chromosomal aberrations and multiple fetal abnormalities. Only good investigations for specific diagnosis can lead to a genetic counsel and a good follow up of the next gestation.

Topics: Cystic Fibrosis; Digestive System Abnormalities; Humans; Intestinal Obstruction; Meconium

We present a case of meconium peritonitis which was associated with a short bowel and complicated by progressive bowel distension and difficulty in making a definitive diagnosis of cystic fibrosis. Treatment was by bowel resection and an ileostomy (and later bowel anastomosis), followed by parenteral nutrition which was complicated by hepatitis. The literature is reviewed and management dilemmas and options are discussed.

Topics: Adult; Cystic Fibrosis; Female; Fetal Diseases; Humans; Ileostomy; Infant, Newborn; Intestinal Obstruction; Intestinal Perforation; Karyotyping; Male; Meconium; Parenteral Nutrition; Peritonitis; Polyhydramnios; Pregnancy; Ultrasonography, Prenatal

Meconium ileus is a manifestation of intestinal and pancreatic dysfunction that results in the accumulation of a sticky and inspissated intraluminal meconium, which in most cases results from the autosomal recessive disease cystic fibrosis. Both nonoperative and operative therapies are effective in relieving this small-bowel obstruction; in the past, although less so today, a successful nonoperative treatment was associated with a more favorable outcome. Once the meconium ileus is relieved successfully, and the diagnosis of cystic fibrosis is established, the treatment for the intestinal manifestations of the disease focuses on enzyme replacement to augment patient nutritional status. Simultaneously, the treatment of the life-threatening pulmonary disease focuses on mucous retention and chronic infection in the lungs. Future therapies for patients with cystic fibrosis include lung transplantation, pharmacologic manipulation of the epithelial cell abnormality, and gene transfer therapy into the respiratory epithelium.

Topics: Cystic Fibrosis; Diagnosis, Differential; Humans; Infant, Newborn; Intestinal Obstruction; Meconium

A survey is given of the pathophysiology of the main alterations in the small intestine of cystic fibrosis patients. Special attention is paid to the understanding of meconium ileus in the fetus and the newborn, the repercussion of duodenal acidity on the duodenal mucosa and the intraduodenal digestion, and primary and secondary biochemical alterations in the secretory-digestive-absorptive function of the small-intestinal mucosa. The meconium equivalent syndrome and its connection with the atypical course of intussusception and appendiceal perforation with silent pelvic abscess are also discussed.

Topics: Cystic Fibrosis; Humans; Intestinal Obstruction; Intestine, Small; Meconium

Topics: Adolescent; Child; Child, Preschool; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Lung; Meconium; Patient Care Team; Radiography, Abdominal; Radiology; Technology, Radiologic

Ultrasonographic (US) findings were correlated with clinical outcome in seven cases of meconium peritonitis detected with prenatal US during a 2-year period. Nineteen previously reported cases were also reviewed. US findings included intraabdominal calcifications (n = six cases), fetal ascites (n = 3), echogenic ascites without calcifications (n = 1), bowel dilatation (n = 2), and polyhydramnios (n = 5). Following delivery, six infants were still alive after a mean follow-up of 13 months (range, 6-26 months); the seventh died of hydrocephalus. Of the six, four required surgical correction of a small-bowel perforation and two did not. All six are thriving, and none has yet been found to have cystic fibrosis. In the 19 previously reported cases, there were only two cases of cystic fibrosis, neither with intraabdominal calcifications. The presence of calcifications was significantly associated with causes other than cystic fibrosis. Prenatally diagnosed cases of meconium peritonitis are associated with cystic fibrosis less frequently than previous studies suggest.

Topics: Ascites; Calcinosis; Cystic Fibrosis; Female; Fetal Diseases; Follow-Up Studies; Humans; Infant, Newborn; Meconium; Peritonitis; Polyhydramnios; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Ultrasonography

Topics: Child, Preschool; Cystic Fibrosis; Female; Genetic Carrier Screening; Genetic Counseling; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Meconium; Minerals; Nutritional Physiological Phenomena; Pancreatic Extracts; Pregnancy; Respiratory Tract Diseases; Respiratory Tract Infections; Vitamins

In the Federal Republic of Germany screening for cystic fibrosis by the albumin content of meconium (BM-test) is performed on most newborns. In this paper arguments for and against this test are discussed. Arguments in favour of BM-test-screening are the possibility of early diagnosis, early treatment and genetic counseling. Drawbacks of the test are false positive and false negative results. The authors conclude that this screening test should not be performed.

Topics: Cystic Fibrosis; False Negative Reactions; False Positive Reactions; Humans; Infant, Newborn; Infant, Newborn, Diseases; Meconium; Reagent Strips; Serum Albumin

It has long been recognized that the patient with chronic lung disease, malnutrition, vitamin K deficiency or electrolyte and blood gas disturbances presents a special problem for the surgeon. Patients with cystic fibrosis have all of these abnormalities. Until recently, the patient with cystic fibrosis was exclusively the domain of the pediatrician. Today, with the increasing number of patients over the age of 20 years, internists and surgeons have an increasingly important role in the care of these patients. In addition, since women with cystic fibrosis are capable of bearing children, the need for genetic, obstetric and gynecologic counseling is becoming more apparent. Although the patient with cystic fibrosis is generally at a much greater risk for the complications of surgical treatment than the normal patient, experience in the management of these patients has greatly improved the outlook. However, in most instances, surgical management of the patient with cystic fibrosis represents palliation, since these patients usually die of the medical complications of their disease. Further controlled studies are needed to fully evaluate the role of surgical treatment in the sequelas of cystic fibrosis.

Topics: Adolescent; Adult; Biliary Tract Diseases; Child; Child, Preschool; Cystic Fibrosis; Female; Hemoptysis; Humans; Hypertension, Portal; Infant; Infant, Newborn; Intestinal Obstruction; Meconium; Middle Aged; Mucocele; Nasal Polyps; Pneumothorax; Risk; Surgical Procedures, Operative

Topics: Adolescent; Child; Child, Preschool; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Lung Diseases; Mass Screening; Meconium; Prognosis

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Mass Screening; Meconium

Topics: Bile Acids and Salts; Blood Proteins; Cystic Fibrosis; Glycoproteins; Hemoglobins; Humans; Infant, Newborn; Intestinal Obstruction; Meconium; Steroids

Topics: Adolescent; Adult; Appetite; Child; Child, Preschool; Cystic Fibrosis; Diabetes Complications; Female; Growth Disorders; Humans; Hypertension, Portal; Infant; Infant, Newborn; Intestinal Diseases; Intestinal Obstruction; Intussusception; Lactose Intolerance; Liver Cirrhosis; Male; Meconium; Pancreas; Pancreatitis; Rectal Prolapse

Topics: Child, Preschool; Colonic Diseases; Cystic Fibrosis; Female; Humans; Ileum; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Atresia; Intestinal Obstruction; Intestine, Small; Jejunum; Meconium; Methods

Topics: Biological Transport; Calcium; Cells, Cultured; Child; Chlorides; Cough; Cystic Fibrosis; Digestive System; Female; Genes; Glycoproteins; Growth Disorders; Humans; Lung Diseases, Obstructive; Male; Meconium; Potassium; Pregnancy; Research; Sodium; Sweat

Topics: Abdomen; Adolescent; Adult; Child; Child, Preschool; Cystic Fibrosis; Fatty Liver; Feces; Humans; Infant; Intestinal Absorption; Intestinal Diseases; Intestinal Mucosa; Intestinal Obstruction; Intestines; Lactose Intolerance; Meconium; Metabolism, Inborn Errors; Pain; Pancreas; Prognosis; Rectal Prolapse

Topics: Adolescent; Adult; Autopsy; Child; Child, Preschool; Cystic Fibrosis; Diabetes Mellitus, Type 1; Female; Humans; Infant; Infant, Newborn; Infertility, Male; Intestinal Obstruction; Liver; Liver Cirrhosis, Biliary; Lung; Male; Meconium; Pancreas; Pregnancy; Sweat

Topics: Acetylcysteine; Adolescent; Autopsy; Child; Child, Preschool; Cystic Fibrosis; Female; Humans; Hydrogen Peroxide; Ileum; Infant; Infant, Newborn; Intestinal Obstruction; Intestinal Perforation; Intestine, Small; Male; Meconium; Pancreatin; Peritonitis; Prognosis; Radiography, Abdominal; Therapeutic Irrigation; Vitamin K Deficiency

Topics: Adolescent; Child; Child, Preschool; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Lung Diseases; Meconium; Mucoproteins; Pancreas; Prognosis; Sweat

Topics: Anal Canal; Congenital Abnormalities; Cystic Fibrosis; Duodenal Obstruction; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Atresia; Intestinal Obstruction; Meconium; Megacolon; Pancreas; Rectum

Although meconium ileus (MI) is the earliest manifestation of cystic fibrosis (CF), and is associated with poorer growth, the longitudinal pulmonary progression of CF children with MI is not clear. To test the hypothesis that MI is associated with worse pulmonary outcomes, we prospectively compared from diagnosis to 12 years of age 32 CF children with MI to 50 CF children without MI who were diagnosed during early infancy through neonatal screening. Pulmonary outcome measures included respiratory symptoms, respiratory infections, pathogens, antibiotic usage, hospitalizations, quantitative chest radiology, spirometry, and lung volume determinations. Obstructive lung disease was defined as percent predicted spirometry values below the lower limits of normal. Longitudinal analyses revealed no significant differences in cough, wheezing, respiratory infections, prevalence of and median times to acquisition of Pseudomonas aeruginosa or Staphylococcus aureus, antibiotic usage, and chest radiograph scores between the two groups. However, MI children showed significantly worse forced expiratory volume in 1 sec (FEV(1)), forced vital capacity (FVC), forced expiratory flow between 25-75% of FVC (FEF(25-75)), % predicted FEV(1), % predicted FEF(25-75), and total lung capacity (TLC). These differences were particularly apparent beginning at age 8-10 years. MI children also had higher rates of and shorter median times to obstructive lung disease. Subgroup analyses showed MI children treated surgically and those treated medically had similar pulmonary outcomes. In conclusion, MI children have worse lung function and more obstructive lung disease than those without MI. Such abnormalities are accompanied by reduced lung volume. MI is a distinct CF phenotype with more severe pulmonary dysfunction.

Topics: Airway Obstruction; Cystic Fibrosis; Female; Humans; Ileus; Infant; Infant, Newborn; Lung; Lung Diseases; Male; Meconium; Neonatal Screening; Prognosis; Prospective Studies; Respiratory Function Tests; Time Factors; Wisconsin

Although newborn screening for cystic fibrosis (CF) is widely advocated, hard evidence in its favor is difficult to obtain, partly because of a dramatically improved life expectancy. Between 1985--1989 infants, born in Wales and the West Midlands were randomized to newborn CF screening by heel-prick immunoreactive trypsin (IRT) measurement or diagnosis by clinical presentation. Eligible children with CF who died in the first 5 years of life were identified from the local pediatricians and from the National UK CF Survey. In all, 230,076 infants were randomized to be screened, while 234,510 were unscreened. One hundred seventy-six CF children were identified, of whom 7 died in the first 5 years of life, 3 having presented with meconium ileus. Median age of diagnosis in the screened group was 8 weeks. On an intention to treat analysis, all 4 nonmeconium ileus-related deaths occurred in the unscreened group (Fisher's exact test, P < 0.05). However, the clinical presentation of 2 of these infants led to them being diagnosed prior to 8 weeks, i.e., earlier than would have been likely by screening. In conclusion, newborn screening has the potential to decrease infant CF deaths, but if it is to be successful, identification and treatment must occur as soon as possible after birth.

Topics: Cystic Fibrosis; False Negative Reactions; Humans; Infant, Newborn; Intestinal Obstruction; Meconium; Neonatal Screening; Risk Factors; Trypsin

Phasing of heterozygous alleles is critical for interpretation of

Topics: Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Humans; Infant, Newborn; Intestinal Obstruction; Meconium; Meconium Ileus; Trypsin; Trypsinogen

We present a case of an infant born to a mother with COVID-19, who at 24 hours of life was treated with a glycerin suppository for failure to pass meconium and went on to develop bilious emesis and abdominal distention as feeding continued over the next several hours. After a barium enema identified the distal obstruction, the pediatric surgical team used rectal irrigation to remove a large meconium plug, which mimicked the appearance of the descending colon on plain film, in a case of small left colon syndrome. Although intestinal obstruction in the newborn is rare, it is imperative that it is promptly diagnosed and treated appropriately to avoid negative outcomes; which, even in perhaps the mildest form of functional distal obstruction, meconium plug syndrome, can lead to an impressive clinical illness with risk of intestinal perforation and subsequent meconium peritonitis if the obstruction is not relieved.

Topics: Child; COVID-19; Cystic Fibrosis; Female; Fetal Diseases; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Vomiting

Topics: Cystic Fibrosis; Female; Fetal Diseases; Humans; Infant, Newborn; Intestinal Obstruction; Meconium

Topics: Cystic Fibrosis; East Asian People; Humans; Infant, Newborn; Meconium

Anastomotic or perianastomotic ulcers present with symptoms such as chronic anaemia and occult bleeding as long-term complications of bowel resection performed in infancy.. Herein, we describe a 15-year-old girl with a history of surgery for meconium obstruction without mucoviscidosis in infancy who was hospitalized with chief complaints of presyncope and convulsions. Seven hours after admission, she developed melena and went into shock. An emergency laparotomy was performed, and a Dieulafoy lesion was detected near the site of ileal anastomosis from the surgery that had been performed during infancy.. Although overt massive lower gastrointestinal bleeding necessitating emergency care is rare in the long term after infant bowel resection, Dieulafoy lesions can cause serious bleeding, requiring rapid life-saving haemostatic procedures.

Topics: Adolescent; Anastomosis, Surgical; Cystic Fibrosis; Female; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Meconium; Ulcer

This is a commentary on the manuscript titled "Early Management of Meconium Ileus in Infants with Cystic Fibrosis: A Prospective Population Cohort Study" by Long A-M, et al.

Topics: Cohort Studies; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Intestinal Obstruction; Meconium; Meconium Ileus; Prospective Studies

Contemporary early outcome data of meconium Ileus (MI) in cystic fibrosis (CF) are lacking on a population level. We describe these and explore factors associated with successful non-operative management.. A prospective population-cohort study using an established surveillance system (BAPS-CASS) was conducted October 2012-September 2014. Live-born infants with bowel-obstruction from inspissated meconium in the terminal ileum and CF were reported. Data are described as median (interquartile range, IQR).. 56 infants were identified. 14/56(25%) had primary laparotomy (13/23 complicated MI, 1/33 simple), the remainder underwent contrast enema. Twelve, (12/33 (36%) with simple MI) achieved decompression. 8/12 (67%) who decompressed had >1 enema vs 3/20 (15%) with simple MI who had laparotomy after enema. The number of enemas per infant (1-4), contrast agents and their concentration, were highly variable. Enterostomy was formed at 24/44(55%) of laparotomies. In infants with simple MI, time to full enteral feeds was 6 (2-10) days in those decompressing with enema vs 15 (9-19) days with laparotomy after enema. Case fatality was 4% (95% CI 0.4-12%). Two infants, both preterm died, both in the second month after birth.. Infants with simple MI achieving successful enema decompression were more likely to have had repeat enemas than those who proceeded to laparotomy. Successful non-operative management was associated with a shorter time to full feeds. The early management of infants with MI is highly variable and not standardised across the UK and Ireland.

Topics: Cohort Studies; Cystic Fibrosis; Enema; Humans; Ileus; Infant; Infant, Newborn; Intestinal Obstruction; Meconium; Meconium Ileus; Prospective Studies

Topics: Child; Cystic Fibrosis; Humans; Infant, Newborn; Intestinal Obstruction; Meconium; Meconium Ileus

Durmuş G, Boybeyi-Türer Ö, Gharibzadeh-Hizal M, Ekinci S, Kiper N. Meconium periorchitis: An incidentally diagnosed rare entity during inguinal herniorraphy. Turk J Pediatr 2018; 60: 612-614. Meconium periorchitis (MPO) is a rare disorder caused by meconium peritonitis with the leakage of meconium into the scrotal sac through the patent processus vaginalis. MPO may be rarely detected during inguinal hernia repair. The association of MPO with cystic fibrosis is rarely seen. We present a male infant with the complaint of left groin swelling, compatible with reducible inguinal hernia. An herniotomy was carried out and the greenish nodules with calcifications were detected. Histopathological examination was compatible with MPO. Two months later the patient was diagnosed with atypical cystic fibrosis. Clinicians should be aware of MPO presentations and its appearance on the hernia sac to prevent unnecessary orchiectomy.

Topics: Cystic Fibrosis; Groin; Hernia, Inguinal; Herniorrhaphy; Humans; Incidental Findings; Infant; Infant, Newborn; Male; Meconium; Orchitis; Scrotum

Meconium ileus (MI) is a perinatal complication in cystic fibrosis (CF), which is only minimally influenced by environmental factors. We derived and examined MI prevalence (MIP) scores to assess CFTR phenotype-phenotype correlation for severe mutations.. MIP scores were established using a Canadian CF population (n = 2,492) as estimates of the proportion of patients with MI among all patients carrying the same CFTR mutation, focusing on patients with p.F508del as the second allele. Comparisons were made to the registries from the US CF Foundation (n = 43,432), Italy (Veneto/Trentino/Alto Adige regions) (n = 1,788), and Germany (n = 3,596).. The prevalence of MI varied among the different registries (13-21%). MI was predominantly prevalent in patients with pancreatic insufficiency carrying "severe" CFTR mutations. In this severe spectrum MIP scores further distinguished between mutation types, for example, G542X (0.31) with a high, F508del (0.22) with a moderate, and G551D (0.08) with a low MIP score. Higher MIP scores were associated with more severe clinical phenotypes, such as a lower forced expiratory volume in 1 second (P = 0.01) and body mass index z score (P = 0.04).. MIP scores can be used to rank CFTR mutations according to their clinical severity and provide a means to expand delineation of CF phenotypes.Genet Med 18 4, 333-340.

Topics: Adolescent; Adult; Alleles; Canada; Child; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Female; Genetic Association Studies; Genotype; Humans; Ileus; Male; Meconium; Mutation; Phenotype; Prevalence; Registries; Respiratory Function Tests; Severity of Illness Index; Young Adult

Topics: Adult; Cesarean Section; Cystic Fibrosis; Fatal Outcome; Female; Fetal Diseases; Fetal Heart; Humans; Meconium; Myocardial Infarction; Peritonitis; Pregnancy; Ultrasonography, Prenatal

Intestinal volvulus is a life-threatening emergency requiring prompt surgical management. Prenatal intestinal volvulus is rare, and most are secondary to intestinal atresia, mesenteric defect or without any underlying cause. Cystic fibrosis (CF) is known to cause digestive tract disorders. After birth, 10-15% of newborns with CF may develop intestinal obstruction within a few days of birth because of meconial ileus.

Topics: Adult; Anastomosis, Surgical; Cesarean Section; Cystic Fibrosis; Female; Fetal Diseases; Humans; Ileal Diseases; Infant, Newborn; Intestinal Atresia; Intestinal Perforation; Intestinal Volvulus; Male; Meconium; Pneumoperitoneum; Pregnancy; Radiography; Treatment Outcome; Ultrasonography, Prenatal

In this work, we are interested to study the implication of -509C/T polymorphism, located in the promoter region of TGFB1 (transforming growth factor β1), in the phenotypic variability of CF patients.. The present study enrolled 111 CF patients and 100 healthy control subjects. The study of the -509C/T polymorphism was performed using PCR-RFLP method.. We found that patients carried non-F508del homozygous mutation with TT genotype was associated to lung symptoms (P=0.04). This association was not found in the sub-groups of patients with F508del at homozygous state P=0.145. No association was found between this polymorphism and the variability of digestive, pancreatic and ileus meconial symptoms.. On the basis of our results, the -509C/T polymorphism of the TGFB1 gene seems to be a modulator factor of cystic fibrosis.

Topics: Adolescent; Adult; Case-Control Studies; Child; Child, Preschool; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Diabetes Mellitus; Digestive System Diseases; Female; Humans; Ileus; Infant; Infant, Newborn; Male; Meconium; Pancreatitis; Phenotype; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Promoter Regions, Genetic; Respiratory Insufficiency; Transforming Growth Factor beta1; Young Adult

The existence of pleiotropy in disorders with multi-organ involvement can suggest therapeutic targets that could ameliorate overall disease severity. Here we assessed pleiotropy of modifier genes in cystic fibrosis (CF). CF, caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, affects the lungs, liver, pancreas and intestines. However, modifier genes contribute to variable disease severity across affected organs, even in individuals with the same CFTR genotype. We sought to determine whether SLC26A9, SLC9A3 and SLC6A14, that contribute to meconium ileus in CF, are pleiotropic for other early-affecting CF co-morbidities. In the Canadian CF population, we assessed evidence for pleiotropic effects on (1) pediatric lung disease severity (n = 815), (2) age at first acquisition of Pseudomonas aeruginosa (P. aeruginosa) (n = 730), and (3) prenatal pancreatic damage measured by immunoreactive trypsinogen (n = 126). A multiple-phenotype analytic strategy assessed evidence for pleiotropy in the presence of phenotypic correlation. We required the same alleles to be associated with detrimental effects. SLC26A9 was pleiotropic for meconium ileus and pancreatic damage (p = 0.002 at rs7512462), SLC9A3 for meconium ileus and lung disease (p = 1.5 × 10(-6) at rs17563161), and SLC6A14 for meconium ileus and both lung disease and age at first P. aeruginosa infection (p = 0.0002 and p = 0.006 at rs3788766, respectively). The meconium ileus risk alleles in SLC26A9, SLC9A3 and SLC6A14 are pleiotropic, increasing risk for other early CF co-morbidities. Furthermore, co-morbidities affecting the same organ tended to associate with the same genes. The existence of pleiotropy within this single disorder suggests that complementary therapeutic strategies to augment solute transport will benefit multiple CF-associated tissues.

Topics: Alleles; Amino Acid Transport Systems; Amino Acid Transport Systems, Neutral; Antiporters; Canada; Child; Child, Preschool; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Female; Genes, Modifier; Genetic Pleiotropy; Genotype; Humans; Ileus; Infant, Newborn; Male; Meconium; Models, Genetic; Morbidity; Mutation; Polymorphism, Single Nucleotide; Pseudomonas aeruginosa; Pseudomonas Infections; Sodium-Hydrogen Exchanger 3; Sodium-Hydrogen Exchangers; Sulfate Transporters

Previous studies of risk factors for progression of lung disease in cystic fibrosis (CF) have suffered from limitations that preclude a comprehensive understanding of the determinants of CF lung disease throughout childhood. The epidemiologic component of the 27-year Wisconsin Randomized Clinical Trial of CF Neonatal Screening Project (WI RCT) afforded us a unique opportunity to evaluate the significance of potential intrinsic and extrinsic risk factors for lung disease in children with CF.. Describe the most important intrinsic and extrinsic risk factors for progression of lung disease in children with CF.. Variables hypothesized at the onset of the WI RCT study to be determinants of the progression of lung disease and potential risk factors previously identified in the WI RCT study were assessed with multivariable generalized estimating equation models for repeated measures of chest radiograph scores and pulmonary function tests in the WI RCT cohort.. Combining all patients in the WI RCT, 132 subjects were observed for a mean of 16 years and contributed 1,579 chest radiographs, and 1,792 pulmonary function tests. The significant determinants of lung disease include genotype, poor growth, hospitalizations, meconium ileus, and infection with mucoid Pseudomonas aeruginosa. The previously described negative effect of female sex was not seen.. Modifiable extrinsic risk factors are the major determinants of progression of lung disease in children with CF. Better interventions to prevent or treat these risk factors may lead to improvements in lung health for children with CF.

Topics: Adolescent; Child; Child, Preschool; Cohort Studies; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Disease Progression; Female; Genotype; Hospitalization; Humans; Ileus; Infant; Infant, Newborn; Longitudinal Studies; Lung; Male; Meconium; Neonatal Screening; Nutrition Disorders; Oligopeptides; Pseudomonas aeruginosa; Pseudomonas Infections; Radiography; Respiratory Function Tests; Risk Factors; Young Adult

In term newborns meconium ileus is frequently associated with cystic fibrosis. Reports on meconium ileus in preterm infants being diagnosed with cystic fibrosis early after birth are very scarce. Associations between genotype and phenotype in cystic fibrosis and its particular comorbidities have been reported.. Two extremely preterm twin infants (26 weeks of gestation) born from a Malaysian mother and a Caucasian father were presented with typical signs of meconium ileus. Despite immediate surgery both displayed a unique and finally lethal course. Mutation analysis revealed a novel, probably pathogenic cystic fibrosis mutation, p.Cys524Tyr. The novel mutation might explain the severity of disease next to typical sequelae of prematurity.. Preterm neonates with meconium ileus have to be evaluated for cystic fibrosis beyond ethnical boundaries, but may take devastating clinical courses despite early treatment. The novel, potentially pathogenic CF mutation p.Cys524Tyr might be associated with severe meconium ileus in neonates. Disease-modifying loci are important targets for intestinal comorbidity of cystic fibrosis.

Topics: Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Diseases in Twins; Fatal Outcome; Humans; Ileus; Infant, Newborn; Infant, Premature; Infant, Premature, Diseases; Male; Meconium; Mutation

To identify the incidence and outcomes of cholestasis and meconium ileus (MI) in infants with cystic fibrosis (CF).. Retrospective cohort study.. Single-centre study.. From January 1986 to December 2011, 401 infants with CF (69 with MI) presented to our centre.. (1) incidence of cholestasis, (2) identification of risk factors for cholestasis, (3) association between the presence of cholestasis and MI and the development of clinically significant CF-associated liver disease (CFLD) defined as multilobular cirrhosis with portal hypertension.. Cholestasis occurred in 23 of 401 infants (5.7%). There was a significantly higher incidence of cholestasis in infants with MI (27.1%) compared to those without MI (1.2%) (p<0.001). Infants with MI had a 30.36-fold increased risk of developing cholestasis compared to those without MI (p<0.001). Cholestasis resolved in all children, at a median (range) age of 9.2 (0.8-53.2) months in the MI group and 10.2 (2.0-19.4) months in the non-MI group. The majority of cholestatic infants (87.0%) and infants with MI (92.8%) did not develop clinically significant CFLD, not significantly different than either the 93.9% of non-cholestatic infants nor the 93.7% infants without MI.. Cholestasis is an uncommon condition in CF affecting only 5.7% of the screened newborn CF population. The greatest risk factor for developing cholestasis is the presence of MI. However, the presence of MI appears not to be associated with the development of CFLD. An effect of neonatal cholestasis on the development of CFLD cannot be excluded by this study.

Topics: Cholestasis; Cohort Studies; Cystic Fibrosis; Female; Humans; Ileus; Incidence; Infant; Infant, Newborn; Male; Meconium; Prognosis; Retrospective Studies; Risk Factors

The purpose of this study was to evaluate outcomes of the surgical management for meconium ileus (MI) and Distal Intestinal Obstruction Syndrome (DIOS) in Cystic Fibrosis (CF).. Children born between 1990 and 2010 were identified using a regional CF database. Retrospective case note analysis was performed. Outcome measures for MI were mortality, relaparotomy rate, length of stay (LOS), time on parental nutrition (TP), and time to full feeds (TFF). Outcome measures for DIOS were: age of onset, number of episodes, and need for laparotomy.. Seventy-five of 376 neonates presented with MI. Fifty-four (92%) required laparotomy. Contrast enema decompression was attempted in nineteen. There were no post-operative deaths. Thirty-nine (72%) neonates with MI were managed with stomas. LOS was longer in those managed with stomas (p=0.001) and in complex MI (p=0.002). Thirty-five patients were treated for DIOS. Twenty-five patients were managed with gastrograffin. Ten patients underwent surgical management of DIOS. Overall, MI did not predispose to later development of DIOS. There was a significantly greater incidence of laparotomy for DIOS in children who had MI.. The proportion of neonates with complex meconium ileus was high (49%) and may explain the infrequent utilisation of radiological decompression. Complex MI or management with stomas both significantly increase LOS. Re-laparotomy rate is high (22%) in MI irrespective of the type of management. DIOS is not a benign condition, particularly when the child has had previous abdominal surgery. Early referral to a surgical team is essential in these children.

Topics: Contrast Media; Cystic Fibrosis; Diatrizoate Meglumine; Digestive System Surgical Procedures; Enema; Female; Humans; Ileus; Infant, Newborn; Intestinal Obstruction; Length of Stay; Male; Meconium; Reoperation; Retrospective Studies; Surgical Stomas; Treatment Outcome

The aim of the present article was to determine the prevalence of liver involvement in Hispanic patients with cystic fibrosis (CF) and identify associations with age and severity of liver involvement.. We used 1994-2005 Epidemiologic Study of CF data to compare abnormal liver findings between Hispanic and non-Hispanic white patients with CF.. Of 30,727 patients with CF, 5015 had liver involvement. Of 1957 Hispanic patients, 20.8% had liver involvement compared with 16.0% of 28,770 non-Hispanic white patients (odds ratio [OR] 1.38, 95% confidence interval [CI] 1.23-1.54). This higher prevalence of liver involvement persisted after adjusting for demographics and meconium ileus and was especially high in the first year of life (adjusted OR 3.14, 95% CI 2.27-4.35). Ten percent of infants with only elevated liver enzymes progressed to more severe liver disease.. The Hispanic population with CF has more liver involvement (both elevated liver enzymes and clinical liver disease) than the non-Hispanic white population with CF, especially during the first year of life.

Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Cystic Fibrosis; Female; Hispanic or Latino; Humans; Ileus; Infant; Infant, Newborn; Liver; Liver Diseases; Male; Meconium; Middle Aged; North America; Odds Ratio; Prevalence; White People; Young Adult

Mucins are excellent candidates for contributing to the presence of meconium ileus (MI) in cystic fibrosis (CF) due to their extensive genetic variation and known function in intestinal physiology. The length of variants in mucin central repetitive regions has not been explored as "risk" factors for MI in CF.. We investigated the length polymorphisms in the central repetitive regions of MUC1, MUC2, and MUC5AC by Southern blot and tested for association with MI in CF subjects.. No significant associations were found for the allele sizes of any of the genes with respect to the prevalence of MI (p values=0.33, 0.16, and 0.71 for MUC1, MUC2, and MUC5AC, respectively).. The genetic length variants in the central repetitive region of three MUC genes studied are not associated with MI in subjects with CF.

Topics: Adolescent; Adult; Case-Control Studies; Child; Cystic Fibrosis; Female; Genetic Variation; Humans; Ileus; Male; Meconium; Mucin 5AC; Mucin-1; Mucin-2; Repetitive Sequences, Nucleic Acid; Young Adult

The coexistence of duodenal atresia (DA) may mask the antenatal ultrasound findings of meconium ileus (MI) and delay its postnatal diagnosis. We report a rare case of MI in a newborn infant diagnosed antenatally to have trisomy 21 and DA. The diagnosis of MI was only established intraoperatively after the patient showed persistent signs of intestinal obstruction following the surgical repair of the DA.

Topics: Cystic Fibrosis; Diagnosis, Differential; Down Syndrome; Duodenal Obstruction; Duodenum; Fatal Outcome; Humans; Ileus; Infant, Newborn; Intestinal Atresia; Male; Meconium; Radiography

Cystic fibrosis (CF) is an autosomal recessive disease caused by a mutation in the CFTR gene, resulting in an alteration of a protein involved in sodium and chloride transport in the apical plasma membrane of epithelial cells in respiratory and intestinal tracts. It primarily presents respiratory compromise, affecting other systems in different ways. Meconium ileus is a gastrointestinal manifestation that occurs in 10-20% of patients, which is not entirely attributable to a specific CFTR mutation.. To report a case of monozygotic twins diagnosed with CF (F508) in whom phenotypic variation is evident based on the expression of meconium ileus, showing that there are external modifiers in the development of this complication.. monoamniotic monochorionic twin pregnancy which resulted in preterm births. One of the patient presented meconium ileus at birth leading to CF suspicion and establishing the diagnosis by (F508/F508) molecular analysis in both twins.. Phenotypic variability in these twins supports the hypothesis proposed by different authors that there are other gene expression-modulation factors of the disease as well as environmental modifiers that must be taken into account when dealing with this disease.

Topics: Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Diseases in Twins; Humans; Ileus; Infant, Newborn; Male; Meconium; Mutation; Phenotype; Twins, Monozygotic

Cystic fibrosis (CF) pigs develop disease with features remarkably similar to those in people with CF, including exocrine pancreatic destruction, focal biliary cirrhosis, micro-gallbladder, vas deferens loss, airway disease, and meconium ileus. Whereas meconium ileus occurs in 15% of babies with CF, the penetrance is 100% in newborn CF pigs. We hypothesized that transgenic expression of porcine CF transmembrane conductance regulator (pCFTR) cDNA under control of the intestinal fatty acid-binding protein (iFABP) promoter would alleviate the meconium ileus. We produced 5 CFTR-/-;TgFABP>pCFTR lines. In 3 lines, intestinal expression of CFTR at least partially restored CFTR-mediated anion transport and improved the intestinal phenotype. In contrast, these pigs still had pancreatic destruction, liver disease, and reduced weight gain, and within weeks of birth, they developed sinus and lung disease, the severity of which varied over time. These data indicate that expressing CFTR in intestine without pancreatic or hepatic correction is sufficient to rescue meconium ileus. Comparing CFTR expression in different lines revealed that approximately 20% of wild-type CFTR mRNA largely prevented meconium ileus. This model may be of value for understanding CF pathophysiology and testing new preventions and therapies.

Topics: Animals; Animals, Genetically Modified; Animals, Newborn; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Disease Models, Animal; Fatty Acid-Binding Proteins; Female; Gene Expression; Humans; Ileum; Ileus; Infant, Newborn; Lung; Male; Meconium; Pancreas; Phenotype; Promoter Regions, Genetic; Radiography; Rats; Sus scrofa; Trachea

Bronchiectasis develops early in the course of cystic fibrosis, being detectable in infants as young as 10 weeks of age, and is persistent and progressive. We sought to determine risk factors for the onset of bronchiectasis, using data collected by the Australian Respiratory Early Surveillance Team for Cystic Fibrosis (AREST CF) intensive surveillance program.. We examined data from 127 consecutive infants who received a diagnosis of cystic fibrosis after newborn screening. Chest computed tomography (CT) and bronchoalveolar lavage (BAL) were performed, while the children were in stable clinical condition, at 3 months and 1, 2, and 3 years of age. Longitudinal data were used to determine risk factors associated with the detection of bronchiectasis from 3 months to 3 years of age.. The point prevalence of bronchiectasis at each visit increased from 29.3% at 3 months of age to 61.5% at 3 years of age. In multivariate analyses, risk factors for bronchiectasis were presentation with meconium ileus (odds ratio, 3.17; 95% confidence interval [CI], 1.51 to 6.66; P=0.002), respiratory symptoms at the time of CT and BAL (odds ratio, 2.27; 95% CI, 1.24 to 4.14; P=0.008), free neutrophil elastase activity in BAL fluid (odds ratio, 3.02; 95% CI, 1.70 to 5.35; P<0.001), and gas trapping on expiratory CT (odds ratio, 2.05; 95% CI, 1.17 to 3.59; P=0.01). Free neutrophil elastase activity in BAL fluid at 3 months of age was associated with persistent bronchiectasis (present on two or more sequential scans), with the odds seven times as high at 12 months of age and four times as high at 3 years of age.. Neutrophil elastase activity in BAL fluid in early life was associated with early bronchiectasis in children with cystic fibrosis. (Funded by the National Health and Medical Research Council of Australia and Cystic Fibrosis Foundation Therapeutics.)

Topics: Bronchiectasis; Bronchoalveolar Lavage Fluid; Child, Preschool; Cystic Fibrosis; Female; Humans; Ileus; Infant; Infant, Newborn; Leukocyte Elastase; Longitudinal Studies; Lung; Male; Meconium; Multivariate Analysis; Prevalence; Risk Factors

Postpartum abdominal distention and meconium ileus may occur due to intestinal obstruction, Hirschprung disease or cystic fibrosis. However, other rare and challenging etiologies such as congenital chloride diarrhea (CCD) should be included in differential diagnosis of such presentation. We present a premature baby girl who had distended abdomen and lack of meconium immediately after birth. Surgical etiology was excluded and she was mistakenly suspected of having cystic fibrosis due to meconium ileus. CCD was diagnosed by recognition of watery diarrhea in association with hyponatremic, hypochloremic metabolic acidosis. Mutation analysis confirmed the diagnosis.

Topics: Cystic Fibrosis; Diagnosis, Differential; Diarrhea; DNA Mutational Analysis; Feces; Female; Humans; Ileus; Infant, Newborn; Infant, Premature; Meconium; Metabolism, Inborn Errors; Risk Assessment

The significance of meconium plug syndrome (MPS) is unclear but has been associated with Hirschsprung's disease and magnesium tocolysis. We reviewed our experience to attempt to identify any potential association with these conditions and to review our outcomes.. Using the International Classification of Diseases, Ninth revision, code for meconium obstruction, patient charts were identified during the 1998-2008 period. A total of 61 cases of MPS were found, after excluding 7 of meconium ileus. Data regarding the hospital course and outcomes were collected and analyzed.. Approximately 30% of patients had spontaneous resolution of the meconium plug without any treatment. Of those patients requiring treatment, contrast barium enema was used, with 97% success. Only 2 patients required surgical intervention owing to worsening distension and subsequent peritonitis. When we stratified the patients according to gestational age of >36 and <36 wk, contrast barium enemas were performed 2.2 ± 1.8 versus 8.6 ± 7.8 d after birth (P = 0.003), respectively, and the lower gestational age patients had a longer length of stay. Contrast barium enema was still successful in 94% of patients with a gestational age of <36 wk. Magnesium tocolysis was noted in 16% of the cases, and Hirschsprung's disease was only found in 3.2% of patients.. Patients with MPS have excellent outcomes, independent of gestational age. Contrast barium enema remains the initial diagnostic and treatment of choice for patients with MPS. Also, although previous reports have shown a link between magnesium tocolysis and Hirschsprung's disease with MPS, our experience suggests otherwise.

Topics: Barium Sulfate; Cystic Fibrosis; Enema; Female; Hirschsprung Disease; Humans; Ileal Diseases; Incidence; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Retrospective Studies; Syndrome; Treatment Outcome

Variants associated with meconium ileus in cystic fibrosis were identified in 3,763 affected individuals by genome-wide association study (GWAS). Five SNPs at two loci near SLC6A14 at Xq23-24 (minimum P = 1.28 × 10(-12) at rs3788766) and SLC26A9 at 1q32.1 (minimum P = 9.88 × 10(-9) at rs4077468) accounted for ~5% of phenotypic variability and were replicated in an independent sample of affected individuals (n = 2,372; P = 0.001 and 0.0001, respectively). By incorporating the knowledge that disease-causing mutations in CFTR alter electrolyte and fluid flux across surface epithelium into a hypothesis-driven GWAS (GWAS-HD), we identified associations with the same SNPs in SLC6A14 and SLC26A9 and established evidence for the involvement of SNPs in a third solute carrier gene, SLC9A3. In addition, GWAS-HD provided evidence of association between meconium ileus and multiple genes encoding constituents of the apical plasma membrane where CFTR resides (P = 0.0002; testing of 155 apical membrane genes jointly and in replication, P = 0.022). These findings suggest that modulating activities of apical membrane constituents could complement current therapeutic paradigms for cystic fibrosis.

Topics: Amino Acid Transport Systems; Amino Acid Transport Systems, Neutral; Antiporters; Cell Membrane; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Ileus; Intestinal Obstruction; Meconium; Polymorphism, Single Nucleotide; Sodium-Hydrogen Exchanger 3; Sodium-Hydrogen Exchangers; Sulfate Transporters

Meconium ileus, intestinal obstruction in the newborn, is caused in most cases by CFTR mutations modulated by yet-unidentified modifier genes. We now show that in two unrelated consanguineous Bedouin kindreds, an autosomal-recessive phenotype of meconium ileus that is not associated with cystic fibrosis (CF) is caused by different homozygous mutations in GUCY2C, leading to a dramatic reduction or fully abrogating the enzymatic activity of the encoded guanlyl cyclase 2C. GUCY2C is a transmembrane receptor whose extracellular domain is activated by either the endogenous ligands, guanylin and related peptide uroguanylin, or by an external ligand, Escherichia coli (E. coli) heat-stable enterotoxin STa. GUCY2C is expressed in the human intestine, and the encoded protein activates the CFTR protein through local generation of cGMP. Thus, GUCY2C is a likely candidate modifier of the meconium ileus phenotype in CF. Because GUCY2C heterozygous and homozygous mutant mice are resistant to E. coli STa enterotoxin-induced diarrhea, it is plausible that GUCY2C mutations in the desert-dwelling Bedouin kindred are of selective advantage.

Topics: Amino Acid Sequence; Animals; Bacterial Toxins; Cyclic GMP; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Diarrhea; Down-Regulation; Enterotoxins; Escherichia coli Proteins; Female; Gastrointestinal Hormones; Genes, Modifier; HEK293 Cells; Heterozygote; Humans; Intestinal Mucosa; Intestinal Obstruction; Male; Meconium; Mice; Molecular Sequence Data; Mutation; Natriuretic Peptides; Pedigree; Phenotype; Receptors, Enterotoxin; Receptors, Guanylate Cyclase-Coupled; Receptors, Peptide

Topics: Cystic Fibrosis; Diabetes Mellitus, Type 1; Fatal Outcome; Female; Humans; Ileal Diseases; Intestinal Obstruction; Intestines; Meconium; Radiography; Young Adult

Technological advances in genetics have made feasible and affordable large studies to identify genetic variants that cause or modify a trait. Genetic studies have been carried out to assess variants in candidate genes, as well as polymorphisms throughout the genome, for their associations with heritable clinical outcomes of cystic fibrosis (CF), such as lung disease, meconium ileus, and CF-related diabetes. The candidate gene approach has identified some predicted relationships, while genome-wide surveys have identified several genes that would not have been obvious disease-modifying candidates, such as a methionine sulfoxide transferase gene that influences intestinal obstruction, or a region on chromosome 11 proximate to genes encoding a transcription factor and an apoptosis controller that associates with lung function. These unforeseen associations thus provide novel insight into disease pathophysiology, as well as suggesting new therapeutic strategies for CF.

Topics: Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; Genes, Modifier; Genetic Linkage; Genetic Markers; Genome-Wide Association Study; Homozygote; Humans; Liver Diseases; Lung Diseases; Mannose-Binding Lectins; Meconium; Mutation; Phenotype

Meconium abnormalities are characterized by a wide spectrum of severity, from the meconium plug syndrome to the complicated meconium ileus associated with cystic fibrosis. Meconium Related Ileus in absence of Cystic Fibrosis includes a combination of highly viscid meconium and poor intestinal motility, low grade obstruction, benign systemic and abdominal examination, distended loops without air fluid levels. Associated risk factors are severe prematurity and low birth weight, Caesarean delivery, Maternal MgSO4 therapy, maternal diabetes. In the last 20 yrs a new specific type of these meconium related obstructions has been described in premature neonates with low birth weight. Its incidence has shown to increase while its management continues to be challenging and controversial for the risk of complicated obstruction and perforation.. Among 55 newborns admitted between 1992-2008 with Meconium Related Ileus as final diagnosis, data about Low Birth Weight infants (LBW < 1500 g) were extracted and compared to those of patients ≥ 1500 g. Hischsprung's Diseases and Cystic Fibrosis were excluded by rectal biopsy and genetic probe before discharge. A softening enema with Gastrografin was the first option whenever overt perforation was not present. Temporary stoma or trans appendiceal bowel irrigation were elected after unsuccessful enema while prompt surgical exploration was performed in perforated cases. NEC was excluded in all operated cases. Data collected were perinatal history and neonatal clinical data, radiological signs, clinical course and complications, management and outcome.. 30 cases with BW ≥ 1500 g had an M/F ratio 16/14, Mean B.W. 3052 g, Mean G.A. 37 w Caesarean section rate 40%. There were 10 meconium plug syndrome, 4 small left colon syndromes, and 16 meconium ileus without Cystic Fibrosis. Five cases were born at our institution (inborn) versus 25 referred after a mean of 2, 4 Days (1-7) after birth in another Hospital (outborn). They were managed, after a Gastrografin enema with 90% success rate, by 1 temporary Ileostomy and 2 trans appendiceal irrigation. 25 cases with BW< 1500 g (LBW) had M/F ratio 11/14, Mean B.W. 818 g, Mean G.A. 27 w, Caesarean section rate 70%, assisted ventilation 16/25. There were 8 inborn and 17 outborn. Gastrografin enema was successful in 6 out 8 inborn infants only, all referred within one week from birth. There were 12 perforations mainly among late referred LBW outborn.. Meconium Related Ileus without Cystic Fibrosis responds to conservative management and softening enema in most of mature infants. In LBW clinical course is initially benign but as any long standing bowel obstruction management may present particular challenges. Clinical and plain radiographic criteria are reliable for making diagnosis and testing for Cystic Fibrosis may not be indicated. Enema may be resolutive when performed in a proper environment. Perforated cases may be confused with NEC which is excluded by clinical history, no signs of sepsis, lab signs missing, abdominal signs missing, typical radiological signs missing. The higher complication rate is recorded among cases delivered and initially managed in Neonatal Units without co-located Surgical Facilities. Early diagnosis and aggressive medical therapy may lead to higher success rate and help avoiding surgical interventions. Surgical therapy in uncomplicated cases, unresponsive to medical management, should be minimally aggressive.

Topics: Cystic Fibrosis; Female; Follow-Up Studies; Humans; Ileus; Incidence; Infant, Low Birth Weight; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature; Infant, Premature, Diseases; Italy; Male; Meconium; Prognosis; Retrospective Studies; Survival Rate

Various definitions for distal intestinal obstruction syndrome (DIOS), meconium ileus equivalent, and constipation in patients with cystic fibrosis (CF) are used. However, an unequivocal definition for DIOS, meconium ileus equivalent, and constipation is preferred. The aims of this study were, therefore, to seek consensus on the definitions for DIOS and constipation in patients with CF and to determine the incidence, characteristics, and treatment of DIOS in a cohort of paediatric patients with CF.. During the 2005 European Society for Paediatric Gastroenterology, Hepatology, and Nutrition meeting in Porto a group of paediatric gastroenterologists discussed the definition of DIOS and constipation in CF. Subsequently, all patients younger than or equal to 18 years with complete DIOS according to the definition agreed upon and diagnosed during the years 2001 to 2005 in 8 CF centres were studied.. Distal intestinal obstruction syndrome was defined as an acute complete or incomplete faecal obstruction in the ileocaecum, whereas constipation was defined as gradual faecal impaction of the total colon. Fifty-one episodes of DIOS in 39 patients were recorded, giving an overall incidence of 6.2 (95% confidence interval, 4.4-7.9) episodes per 1000 patient-years. Of the 39 patients with DIOS, 20% experienced a relapse, 92% were pancreatic insufficient, 44% had a history of meconium ileus at birth, and 82% had a severe genotype. Conservative treatment was effective in 49 of 51 DIOS episodes (96%).. The European Society for Paediatric Gastroenterology, Hepatology, and Nutrition CF Working Group definitions of DIOS and constipation in CF are specific and make a clear distinction between these 2 entities. The incidence of DIOS in the present study was considerably higher than reported previously.

Topics: Constipation; Cystic Fibrosis; Exocrine Pancreatic Insufficiency; Genotype; Humans; Ileal Diseases; Ileus; Incidence; Intestinal Obstruction; Meconium; Multicenter Studies as Topic

Topics: Constipation; Cystic Fibrosis; Genotype; Humans; Ileal Diseases; Intestinal Obstruction; Meconium; Multicenter Studies as Topic; Mutation

Patients with cystic fibrosis (CF) presenting with meconium ileus (MI) tend to have worse outcomes than those without MI. We evaluated the clinical characteristics and survival rates among Israeli patients with CF with and without MI after a prolonged follow-up (15-30 years).. A multicenter retrospective study. Forty-nine patients with CF, representing 13.8% of all patients with CF in Israel, presented with MI (current age 17.4 +/- 7.9 years) between 1975 and 2006. They were compared with 38 patients with CF (current age 19.3 +/- 6.5 years) without MI matched by sex and CF transmembrane conductance regulator mutation.. A total of 66.2% of patients with MI and 73.6% without MI were followed for a prolonged period (24.9 +/- 2.7 years). Of the patients with MI, 31 were managed operatively, whereas 18 were treated successfully with gastrograffin enema, with similar clinical outcomes. Five patients in the MI group and 3 in the control group died during the study period. Bacterial colonization, z score of body mass index, and pulmonary function tests were similar in patients with and without MI in the long term. In younger patients, many clinical parameters were more prevalent in patients with MI (P = 0.004). However, these differences disappeared after the long-term follow-up (up to 31-years).. Patients with CF presenting with MI had similar pulmonary function and nutritional status, as well as survival rates as did the control patients without MI. The distinct genetic mutation found in our population may explain in part the favorable results compared with other studies. In addition, it seems that early diagnosis and treatment of MI in patients with CF may be beneficial, subsequently lowering morbidity, and increasing survival.

Topics: Adolescent; Adult; Age Factors; Body Mass Index; Child; Cystic Fibrosis; Diatrizoate Meglumine; Disease Progression; Enema; Female; Humans; Ileus; Infant; Israel; Lung; Male; Meconium; Respiratory Function Tests; Retrospective Studies; Risk Factors; Survival Analysis; Treatment Outcome; Young Adult

The aims of this study were to determine prevalence, risk factors and treatment of constipation in patients with Cystic Fibrosis (CF), as well as the diagnostic value of abdominal radiography.. A cohort of 214 pediatric CF patients was investigated. Furthermore, 106 abdominal radiographs of CF patients with or without constipation were independently assessed by three observers on two separate occasions using the Barr and Leech scores.. The prevalence of constipation was 47%. Low total fat absorption and meconium ileus were independent risk factors for constipation in CF, while fiber and fluid intake were not associated. In CF patients the inter and intraobserver variabilities of the Barr and Leech scores were poor to moderate.. Constipation is a significant medical issue in CF and was associated with low total fat absorption and a history of meconium ileus. Finally, abdominal radiography seems of little value in the regular follow-up of CF patients.

Topics: Adolescent; Child; Child, Preschool; Constipation; Cystic Fibrosis; Dietary Fats; Female; Humans; Ileus; Infant, Newborn; Intestinal Absorption; Malabsorption Syndromes; Male; Meconium; Observer Variation; Prevalence; Radiography, Abdominal; Risk Factors; Steatorrhea

In Cftr-/- mice that mostly die because of intestinal obstruction, intestinal expression of Clca3 is decreased, whereas upregulation of Clca3 results in amelioration of intestinal disease. The aim of the study was to investigate whether the p.S357N variant in CLCA1, the human orthologue of Clca3, acts as a modifier gene in a cohort of 682 European patients with cystic fibrosis (CF)-99 patients with meconium ileus. The 357SS genotype was significantly overrepresented in both patients with meconium ileus and also with a severe CFTR genotype (P = 0.009) and in p.F508del homozygotes (P = 0.002). This suggests that CLCA1 has similar important functions in CF-related intestinal obstruction in humans as in Cftr-/- mice.

Topics: Adolescent; Adult; Child; Chloride Channels; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Europe; Female; Genetic Variation; Genotype; Humans; Ileus; Infant, Newborn; Male; Meconium; Young Adult

The present study compares the clinical presentation and diagnostic features of meconium ileus (MI) in newborns with and without cystic fibrosis (CF). A retrospective study of 43 patients treated in the Pediatric Surgical Center of Amsterdam was performed. Twenty-three of the patients (53.5%) were diagnosed as having CF. Complex MI was significantly more frequent in patients without CF, and these patients had lower gestational ages and birth weights than patients with CF. All of the patients with complex MI had homozygous DF508 mutations, whereas the patients with simple MI also had other mutations. None of the patients with other mutations had complex MI. Therefore, we conclude that the clinical entity of MI represents a spectrum of underlying pathologies.

Topics: Birth Weight; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Genotype; Gestational Age; Humans; Ileus; Incidence; Infant, Newborn; Meconium; Mutation; Retrospective Studies

Lung disease causes most of the morbidity and mortality in cystic fibrosis (CF). Understanding the pathogenesis of this disease has been hindered, however, by the lack of an animal model with characteristic features of CF. To overcome this problem, we recently generated pigs with mutated CFTR genes. We now report that, within months of birth, CF pigs spontaneously developed hallmark features of CF lung disease, including airway inflammation, remodeling, mucus accumulation, and infection. Their lungs contained multiple bacterial species, suggesting that the lungs of CF pigs have a host defense defect against a wide spectrum of bacteria. In humans, the temporal and causal relations between inflammation and infection have remained uncertain. To investigate these processes, we studied newborn pigs. Their lungs showed no inflammation but were less often sterile than controls. Moreover, after introduction of bacteria into their lungs, pigs with CF failed to eradicate bacteria as effectively as wild-type pigs. These results suggest that impaired bacterial elimination is the pathogenic event that initiates a cascade of inflammation and pathology in CF lungs. Our finding that pigs with CF have a host defense defect against bacteria within hours of birth provides an opportunity to further investigate CF pathogenesis and to test therapeutic and preventive strategies that could be deployed before secondary consequences develop.

Topics: Animals; Animals, Newborn; Cystic Fibrosis; Disease Models, Animal; Ileus; Inflammation; Lung; Meconium; Mucus; Pancreatic Diseases; Radiography, Thoracic; Survival Analysis; Swine; Time Factors

It is a matter of debate as to what extent the long-term outcome of cystic fibrosis (CF) is affected by presenting with meconium ileus (MI). We compared long-term clinical outcomes of CF children who presented with MI, to those presenting with other symptoms (non-MI) in an era of non new-born-screening (NBS).We collected annual lung function data between the ages of 8-15 years in terms of percent predicted first second forced expired volume (FEV1%pr), percent predicted forced vital capacity (FVC%pr), and between the ages of 2-15 years annual height and weight Z-scores (HtZ and WtZ respectively) for children attending the Royal Brompton Hospital CF clinic. To be included in the study, subjects had to have at least five pulmonary function tests and five anthropometric measurements recorded over this period.Thirty-eight MI and 76 non-MI subjects were compared. There were no significant differences in genotype, sex, chronic Pseudomonas infection, or pancreatic enzyme use between the two groups. The median age of diagnosis was 1 day (MI) versus 7 months (non-MI). There was a decline in spirometry and anthropometric variables over the study period for both MI and non-MI groups apart from WtZ score in the non-MI group. Mixed model analysis adjusting for potential confounders including genotype, pancreatic status, sex, chronic Pseudomonas aeruginosa lung infection, and age of diagnosis revealed no difference between the two groups in terms of lung function and growth during the time period of the study, however there was a non-significant trend for subjects presenting with MI to do better in all four parameters.We conclude that babies presenting with MI have no worse long-term outcome than those presenting symptomatically later in infancy, despite having undergone invasive procedures in the newborn period. This underscores the importance of early diagnosis and treatment in CF.

Topics: Adolescent; Child; Child, Preschool; Cystic Fibrosis; Female; Humans; Ileus; Male; Meconium; Prognosis; Respiratory Function Tests

Cystic fibrosis (CF) is a monogenic disease due to mutations in the CFTR gene. Yet, variability in CF disease presentation is presumed to be affected by modifier genes, such as those recently demonstrated for the pulmonary aspect. Here, we conduct a modifier gene study for meconium ileus (MI), an intestinal obstruction that occurs in 16-20% of CF newborns, providing linkage and association results from large family and case-control samples. Linkage analysis of modifier traits is different than linkage analysis of primary traits on which a sample was ascertained. Here, we articulate a source of confounding unique to modifier gene studies and provide an example of how one might overcome the confounding in the context of linkage studies. Our linkage analysis provided evidence of a MI locus on chromosome 12p13.3, which was segregating in up to 80% of MI families with at least one affected offspring (HLOD = 2.9). Fine mapping of the 12p13.3 region in a large case-control sample of pancreatic insufficient Canadian CF patients with and without MI pointed to the involvement of ADIPOR2 in MI (p = 0.002). This marker was substantially out of Hardy-Weinberg equilibrium in the cases only, and provided evidence of a cohort effect. The association with rs9300298 in the ADIPOR2 gene at the 12p13.3 locus was replicated in an independent sample of CF families. A protective locus, using the phenotype of no-MI, mapped to 4q13.3 (HLOD = 3.19), with substantial heterogeneity. A candidate gene in the region, SLC4A4, provided preliminary evidence of association (p = 0.002), warranting further follow-up studies. Our linkage approach was used to direct our fine-mapping studies, which uncovered two potential modifier genes worthy of follow-up.

Topics: Adolescent; Chromosome Mapping; Chromosomes, Human, Pair 12; Cystic Fibrosis; Female; Genetic Linkage; Humans; Ileus; Infant, Newborn; Male; Meconium; Receptors, Adiponectin; Sodium-Bicarbonate Symporters

Cystic fibrosis (CF) is a multisystem disorder intrinsically associated with inflammation of mucosal surfaces. Because inflammation can result in enteric neuromuscular dysfunction we hypothesized that terminal ileitis in patients with CF may predispose to distal ileal obstruction syndrome (DIOS).. Full-thickness terminal ileal tissues from 6 children with CF and severe DIOS, 6 infants with complicated meconium ileus (MI), and 6 children with non-CF intestinal atresia were studied.. Lymphocyte-predominant mucosal and transmural ileal inflammation was present in 6 of 6 patients with DIOS. Lymphocytic ganglionitis was present in 4 of 6 although numbers of myenteric neurons were not decreased (5/5). Myocyte proteins were preserved (6/6). Mild submucosal fibrosis was common in DIOS (5/6) and transformation of submucosal fibroblasts to a myofibroblastic phenotype was noted in 4 of 6. Inflammatory changes were distinct from those described in fibrosing colonopathy. Antroduodenal manometry in an individual who had experienced MI/DIOS was consistent with a neuropathic pseudo-obstructive process. Submucosal or transmural lymphocyte predominant inflammation was also present in 6 of 6 infants with complicated MI, which, when coupled with submucosal myofibroblast proliferation (5/6), appeared highly predictive of CF rather than non-CF atresia. Histological findings at birth were similar, although milder, than those seen in DIOS, suggesting that these changes are a primary abnormality in CF.. Submucosal or transmural inflammation of the ileum is common in newborns with CF and MI and older children with DIOS. Severe recurrent DIOS should be investigated with seromuscular and mucosal biopsy of the ileum to seek a transmural ileitis potentially amenable to anti-inflammatory therapies.

Topics: Adolescent; Child; Child, Preschool; Crohn Disease; Cystic Fibrosis; Duodenum; Female; Fibroblasts; Ganglion Cysts; Humans; Ileum; Ileus; Infant; Inflammation; Intestinal Atresia; Intestinal Mucosa; Intestinal Pseudo-Obstruction; Lymphocytes; Male; Manometry; Meconium; Muscle Cells; Myenteric Plexus; Retrospective Studies

Cystic Fibrosis (CF) is a common autosomal recessive disease that affects multiple organs. The lack of an animal model with manifestations like those typically found in humans has slowed understanding of its pathogenesis. Therefore, because of the similarities between human and swine anatomy, biochemistry, physiology, size, and genetics, we chose to develop a porcine model of CF. We used homologous recombination in primary cultures of porcine fibroblasts to disrupt the CFTR gene and then used those cells as nuclear donors for somatic cell nuclear transfer. After crossing heterozygous pigs, we produced CFTR-/- pigs. The newborn CFTR null piglets manifested meconium ileus, pancreatic destruction, early focal biliary cirrhosis, and gall bladder abnormalities that were very similar to those observed in humans with CF. At birth, there were no abnormalities in the airway epithelium or submucosal glands and no evidence of inflammation, consistent with findings in the newborn human. We hope that this porcine model will help elucidate the pathogenesis of CF and thereby lead to the development of new mechanism-based therapies.

Topics: Animals; Animals, Genetically Modified; Animals, Newborn; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Disease Models, Animal; Gallbladder Diseases; Gene Targeting; Humans; Ileus; Infant, Newborn; Liver Diseases; Meconium; Models, Biological; Mutation; Pancreatic Diseases; Phenotype; Respiratory System; Species Specificity; Swine

To identify cystic fibrosis (CF) patients with a history of meconium ileus (MI) and to compare long-term outcome of these patients with CF patients without MI.. 370 CF patients who were treated at the Munich CF centre in 2006, mean age 17.1 years (range: 0-48), were classified with regard to a history of MI.. Retrospective chart analysis regarding history of MI, age, and lung function and first detection of Pseudomonas aeruginosa as the primary outcome variables.. We identified 60 patients with MI (16.2% of all patients with a mean age of 16.2 +/- 9 years (0-41) who did not differ in age from patients without MI (17.3 +/- 10; 0-48), whereas the mean age of CF diagnosis was different (0.4 vs. 21.8 months, P < 0.001). Cross sectional analysis of best Forced expiratory volume (FEV% predicted) in 2006 was not different between patients with MI (89 +/- 23%, 17-134) and those without (88 +/- 27%, 21-148, P = 0.73). Longitudinal analysis using FEV1 values of more than 9,000 lung function tests also showed no difference in FEV1 although first detection of P. aeruginosa in patients with MI was significantly earlier.. MI was associated with hospitalization, surgery, and early infection with P. aeruginosa. However, the long-term outcome of CF patients with or without MI was the same. This finding might be explained by the considerably earlier CF diagnosis in CF patients with MI including the benefit of an early initiation of appropriate CF therapy.

Topics: Adolescent; Adult; Child; Child, Preschool; Cystic Fibrosis; Female; Humans; Ileus; Infant; Infant, Newborn; Male; Meconium; Middle Aged; Retrospective Studies; Time Factors

Contrast enema is the initial study of choice for simple meconium ileus to confirm diagnosis and to relieve obstruction. Despite favorable historically published results, our clinical impression suggests decreased effectiveness of the contrast enema resulting in more surgical interventions in contemporary practice.. A retrospective multiinstitutional review for a 12-year period was conducted for neonates diagnosed with meconium ileus by contrast enema. The neonates were divided into 2 groups-historic group (HG = before 2002) and contemporary group (CG = after 2002). T test was used for comparison of continuous variables and chi(2) for categorical data.. Thirty-seven total patients were identified (21 females and 16 males). Obstruction was relieved in 8 neonates (22% overall success rate). Average enema attempt per patient was decreased in the CG group compared to HG (1.4 vs 1.9). The success rate in the CG group was 5.5% (1/18) compared to 39% (7/18) in HG.. In this review, success of contrast enema for relief of meconium ileus has significantly decreased over time. These findings may be because of reluctance to repeat enemas, change in radiologist experience, or use of contrast agent. As a result, higher rates of operative intervention are now observed. In stable patients, surgeons should recommend repeat enemas before exploration.

Topics: Birth Weight; Cystic Fibrosis; Diatrizoate Meglumine; Enema; Female; Gestational Age; Humans; Ileus; Infant, Newborn; Male; Meconium; Preoperative Care; Radiography; Retrospective Studies; Treatment Outcome

We are reporting the case of a neonate which died on 16th day of life due to a fatal evolution of a rare association of cystic fibrosis and Hirschsprung's disease.

Topics: Colonic Diseases; Cystic Fibrosis; Fatal Outcome; Hirschsprung Disease; Humans; Ileal Diseases; Ileus; Infant, Newborn; Male; Meconium

We discuss an infant with MI secondary to cystic fibrosis, who was managed surgically by a double barrel ileostomy for mid - small bowel atresia and developed severe faecal impaction in the post - operative period. The faecal impaction was treated successfully with oral NAC and 0.2% NAC contrast enemas. The patient's liver function tests revealed a dramatic increase in transaminases and bilirubin contemporaneous with the administration of the enemas. The levels showed a spontaneous improvement after discontinuation. This is only the second reported case of hepatotoxicity secondary to NAC enemas in the literature. While our experience offers modest support for the use of NAC, its efficacy is not yet proven and paediatric surgeons using NAC in the enema form need to closely monitor liver function contemporaneous with this agent's administration and adjust their treatment accordingly.

Topics: Acetylcysteine; Chemical and Drug Induced Liver Injury; Cystic Fibrosis; Enema; Fecal Impaction; Free Radical Scavengers; Humans; Ileus; Infant, Newborn; Meconium

The aim of this report is to determine clinical characteristics and outcome of Cystic Fibrosis (CF).. Cases of CF managed at Infantile Medicine A Department in Children's Hospital of Tunis during 13 years (1994-2006) were reviewed.. 16 children had CF. They were 8 males and 8 females. 13 patients were consanguineous and four had similar familial cases. The mean age at diagnosis was 19 months (10 days, 13 years). 3/4 of patients were symptomatic within the first trimester of life. Revealing symptoms were: obstructive bronchopathy associated to chronic diarrhea (n=6), edema-anemia-hypotrophy-hypoproteinemia syndrome (n=3), meconium ileus (n=4), bronchiectasis (n=2) and chronic diarrhea (n=1). The diagnosis was confirmed by sweat test and genotypic data. The F508 del was the most frequent mutation (54%). Clinical outcome was characterized by the occurrence of respiratory and nutritional complications: acute respiratory failure (n=6), chronic respiratory failure (n=3), chronic pseudomonas aeruginosa infection (n=6) at a medium age of 3.8 years, recurrent haemoptysis (n=2), pleural effusion (n=2), a malnutrition (n =10) and diabetes associated to puberty delay in one patient. Seven patients died at mean age of 4.4 years (6 months, 17.3 years). Among surviving patients, six had no compromised nutritional status or lung function. Prenatal diagnosis was performed in three families.. CF is characterized by earliest onset and severity of symptoms. Therapeutic insufficiency is the main cause of precocious complications and poor prognosis in our series.

Topics: Adolescent; Bronchiectasis; Child; Child, Preschool; Chronic Disease; Consanguinity; Cystic Fibrosis; Diarrhea; Female; Genotype; Hospitals, Pediatric; Humans; Ileus; Infant; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Mutation; Nutritional Status; Prognosis; Respiratory Insufficiency; Retrospective Studies; Survival Analysis; Sweat

Topics: Cystic Fibrosis; Female; Fetal Diseases; Humans; Infant, Newborn; Intestinal Perforation; Male; Meconium; Orchitis; Pregnancy; Testicular Hydrocele; Ultrasonography, Prenatal

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Intestinal Obstruction; Meconium

The case of a 36 year-old primigravida is presented. After a normal anomaly scan at 22 weeks and a normal pregnancy, she went into labor at term. Dystocia due to massive abdominal distension complicated the second stage. The newborn girl had meconium peritonitis with colonic perforation and required colonic resection with colostomy. Genetic testing detected cystic fibrosis. In this case complex meconium peritonitis developed silently (without any clinical sign) after a normal anomaly scan. This has not been reported since the start of the widespread use of obstetric ultrasound. Late meconium peritonitis can escape detection and should be thought of in cases of unexpected abdominal distension causing dystocia.

Topics: Abdomen; Adult; Colon; Colonic Diseases; Cystic Fibrosis; Dystocia; Female; Fetal Diseases; Homozygote; Humans; Infant, Newborn; Meconium; Peritonitis; Pregnancy

Topics: Base Sequence; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Gene Deletion; Heterozygote; Humans; Ileal Diseases; Infant, Newborn; Intestinal Diseases; Meconium; Models, Genetic; Molecular Sequence Data; Mutation; Neonatal Screening; Trypsinogen

Various options are available for the surgical treatment of meconium ileus (MI). This paper examines the use of resection and primary anastomosis as the favoured option for the treatment of complicated meconium ileus. This was a retrospective study. All patients (13 children) with MI treated with primary resection and anastomosis (RA) in the 10-year period (1996-2005) at St Mary's Hospital in Manchester were identified. The case notes were retrieved. The gestational age, type of surgery, length of bowel resection and complications were recorded. Out of 13 (3 males, 10 females), 7 had severely dilated bowels, 5 had perforation and 1 had volvulus. Mean length of bowel resection was 33.8 cm (range 20-50 cm). Overall survival in this group was 85%. Seven patients (54%) developed complications. Four (31%) had surgical complications: two anastomotic strictures with adhesions, one adhesive intestinal obstruction and one intra-abdominal drain retraction. Primary resection and anastomosis is a safe option in the treatment of complicated meconium ileus. It has the advantage of less hospital stay and avoids a secondary laparotomy for closure of the stoma.

Topics: Anastomosis, Surgical; Cause of Death; Cystic Fibrosis; Female; Follow-Up Studies; Humans; Ileus; Infant, Newborn; Intestines; Laparotomy; Length of Stay; Male; Meconium; Retrospective Studies; Survival Rate; Treatment Outcome; United Kingdom

Serum immunoreactive trypsin (IRT) is used as a screening test for cystic fibrosis (CF) in neonates in many countries. Variations in IRT levels are observed in healthy and cystic neonates within the first few weeks of life. Fifteen percentage of CF neonates present with meconium ileus (MI). We hypothesised that there may be differences in serum IRT levels in cystic babies with simple and complicated MI. The aim of this study was to investigate the serum levels of IRT in neonates with CF presenting with MI. IRT levels were sequentially measured in neonates (n = 29) with CF with intestinal obstruction due to simple or complicated MI. These were compared to levels obtained from non-cystic neonates/controls admitted with a variety of other intra-abdominal pathologies (n = 49) IRT levels were significantly higher in the CF-MI group than the non-cystic controls (P < 0.001). There was no statistical difference in IRT levels between the simple or complicated MI groups. In the MI group there was no statistical difference between those who required operation, no difference between the pre- and post-operative IRT levels and no significant relationship between IRT levels and birth weight or gestation. Serum IRT levels are significantly elevated in neonates with CF and MI compared with non-cystic, non-MI neonates. The results of this observational study highlight that a single raised level of IRT in a neonate should prompt the analysis for CF regardless of any underlying surgical pathology.

Topics: Biomarkers; Cystic Fibrosis; Diagnosis, Differential; Follow-Up Studies; Humans; Ileus; Infant, Newborn; Meconium; Retrospective Studies; Severity of Illness Index; Trypsin

Does a delay in diagnosis exist in females with cystic fibrosis (CF) presenting with respiratory symptoms alone. Does it segregate with poorer clinical outcomes?. A set of 3,851 patients registered with the UK CF Database (diagnosed 1986-2003) were divided into four mutually exclusive categories by mode of presentation: meconium ileus or distal intestinal obstruction syndrome (MI/DIOS); positive family history; newborn screening; and symptoms excluding MI/DIOS. The last symptom category was subdivided to create a group for respiratory symptoms alone.. Females presenting with respiratory symptoms alone were diagnosed 9 months later than males (median age of diagnosis in males 22 months, n = 325; females, 31 months, n = 322; P = .028). No gender differences were observed for anthropometric, lung function, microbiological, supplemental feeding, or time since diagnosis using discriminant analysis applied to all patients (n = 461, Wilks' lambda = .97, P = .15) or to patients divided by genotype: DeltaF508/DeltaF508 (n = 168, Wilks' lambda = .97, P = .69), class I-III genotype (n = 251, Wilks' lambda = .96, P = .41), or class IV-V genotype (n = 73, Wilks' lambda = .90, P = .50) presenting with respiratory symptoms alone.. A relative delay in diagnosis exists in female patients presenting with respiratory symptoms alone compared with males. This does not, however, segregate with a significantly poorer clinical phenotype in the UK.

Topics: Child, Preschool; Cystic Fibrosis; Databases, Factual; Female; Genotype; Humans; Infant; Infant, Newborn; Male; Meconium; Medical Records, Problem-Oriented; Neonatal Screening; Respiratory Tract Infections; Risk Factors; Sex Factors; Time Factors; Treatment Outcome

This matched case-control study compared the nutritional and the pulmonary long-term outcomes of cystic fibrosis (CF) patients presenting a history of meconium ileus (MI) with early-diagnosed symptomatic CF without MI (non-MI).. Twenty-six patients with CF treated for MI between 1980 and 1997 have been matched for sex, birth date, and earliest CF symptomatic diagnosis for the children with non-MI CF. Clinical characteristics, genotype and complications were evaluated as well as the progression of the CF disease from infancy to 15 years old by nutritional status (z score weight, z score height), pulmonary function tests (PFTs) (FVC and FEV1), and Pseudomonas aeruginosa acquisition.. Median duration of the follow-up was 12.5 years (range, 10-17 years). Genotype identification showed no significant difference. Further on, the rate of complications and the occurrence of chronic P. aeruginosa colonization did not differ. At age of 15 years (n = 13), nutritional status and PFTs did not demonstrate any significant difference.. These results suggest that adequate initial nutritional and medical management of MI allows further similar nutritional status and PFTs compared with other early-diagnosed symptomatic CF patients. In this study, MI did not represent an additional risk factor for the patient's life.

Topics: Adolescent; Case-Control Studies; Cathartics; Child; Child, Preschool; Cohort Studies; Cystic Fibrosis; Diatrizoate Meglumine; Digestive System Surgical Procedures; Enema; Female; Humans; Ileus; Infant; Intestinal Obstruction; Male; Meconium; Nutrition Assessment; Pseudomonas aeruginosa; Pseudomonas Infections; Respiratory Function Tests; Treatment Outcome

The authors present a case of cystic fibrosis in a newborn. The first symptom of cystic fibrosis in this case was meconium ileus. They describe correct diagnostic method of ileus in newborn, consecutive operation and last but not least they show necessity of follow-up investigations to verification of cystic fibrosis.

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium

Meconium ileus equivalent is one of the lesser-known manifestations of cystic fibrosis. It manifests as distant small bowel obstruction caused by meconium-like stool plugs and occurs mostly in adult patients. With the improved overall survival of patients with cystic fibrosis, general surgeons may encounter this condition more often in the future. We treated a 19-year-old woman with cystic fibrosis who presented with complete distal small bowel obstruction. Medical therapy with Gastrografin and N-acetylcysteine failed to resolve the obstruction. At surgery, a meconium-like plug in the distal ileum was manually pushed into the colon with subsequent relief of symptoms. Meconium ileus equivalent should be considered and treated in cystic fibrosis patients presenting with small bowel obstruction.

Topics: Adult; Cystic Fibrosis; Female; Humans; Intestinal Obstruction; Intestine, Small; Meconium

Information concerning long-term operative outcomes in patients with cystic fibrosis (CF) is relatively sparse in the operative literature.. A retrospective review of CF patients with operative conditions was performed (1972-2004) at a tertiary children's hospital to analyze outcomes including long-term morbidity and survival.. A total of 226 patients with CF presented with an operative diagnosis (113 men, 113 women). A total of 422 operations were performed in 213 patients (94%). The mean age at operation was 4.1 +/- 6.2 years (range, 1 d to 26 y) and 109 were neonates. Fifteen of 42 (36%) babies with simple meconium ileus (MI) were treated nonoperatively with hypertonic enemas, 27 of 42 and all 45 patients with complicated MI required operation, including 15 with jejunoileal atresia (17%). Seventeen of 27 (63%) patients with meconium ileus equivalent had MI as neonates; 7 of 27 (26%) required operation. Eight of 9 (89%) with fibrosing colonopathy required operation. Organ transplantation was required in 21 patients. Follow-up evaluation was possible in 204 of 213 (96%) patients. The duration of follow-up evaluation was 14.9 +/- 8.5 years (range, 2 mo to 35 y). Operative morbidity was 11% at 1 year, 2% at 2 to 4 years, 1% at 5 to 10 years, and less than 1% at more than 10 years. There were 24 deaths (11%); 22 followed CF-related pulmonary complications and included 8 of 16 (50%) children with pneumothorax.. Long-term survival in CF patients has improved significantly (89%), with many surviving into the fourth decade. MI may predispose to late complications including meconium ileus equivalent and fibrosing colonopathy. Pneumothorax in CF patients is an ominous predictor of mortality. Children with CF are living longer and are good candidates for operation, but require long-term follow-up evaluation because of ongoing exocrine dysfunction.

Topics: Abdomen; Adolescent; Adult; Bile Duct Diseases; Child; Child, Preschool; Cystic Fibrosis; Female; Humans; Ileus; Infant; Infant, Newborn; Intestinal Diseases; Intussusception; Liver Diseases; Male; Meconium; Pneumothorax; Postoperative Complications; Retrospective Studies; Survival Analysis; Thoracic Surgical Procedures; Treatment Outcome

About one-half of patients with meconium ileus (MI) present with a complication such as volvulus, atresia, meconium peritonitis or giant cystic meconium peritonitis. The treatment of these complications requires surgery. However, the preoperative diagnosis of complicated MI is difficult. We describe two neonates with complicated small-bowel obstruction, one with MI related to cystic fibrosis and the other not related to cystic fibrosis. In both, contrast enema depicted a spiral appearance of the distal small bowel, which at surgery proved to be the result of volvulus associated with antenatal bowel perforation. This appearance of the small bowel on contrast enema in this clinical setting has not been previously described. The recognition of this spiral appearance of the distal small bowel suggests the need for surgery.

Topics: Contrast Media; Cystic Fibrosis; Enema; Female; Humans; Ileus; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestinal Perforation; Intestinal Volvulus; Intestine, Small; Meconium; Radiography, Abdominal; Ultrasonography, Interventional

Two newborn girls presented with congenital small-bowel atresia; in one case a high intestinal obstruction had been demonstrated by prenatal echography, while in the other case there were feeding problems and a failure to produce meconium. In both infants, the postoperative period was complicated by feeding problems, malabsorption and insufficient growth. Cystic fibrosis (CF) was then diagnosed in both patients. After modification of the diet, both showed rapid growth to a normal weight. The prevalence of CF in children with congenital small-bowel atresia is 6-13%, which is considerably higher than in a normal population. There is still no good explanation for this finding, but it is likely that CF contributes to the development of small-bowel atresia. In view of the high prevalence of CF in children with small-bowel atresia, children with congenital small-bowel atresia should be examined for CF.

Topics: Cystic Fibrosis; Female; Humans; Infant, Newborn; Intestinal Atresia; Intestinal Obstruction; Intestine, Small; Meconium; Postoperative Complications; Treatment Outcome

To describe the prevalence of liver disease in a cohort of 241 cystic fibrosis (CF) patients.. 241 CF patients were followed-up every 3 months with clinical and biological assessment, and every year with ultrasonography of the liver. The presence of liver disease was studied using a multivariate Cox's regression analysis including variables such as history of meconium ileus, pulmonary function, pancreatic insufficiency and CFTR gene mutations.. The prevalence of liver disease was 18, 29, and 41% after 2, 5 and 12 years, respectively, and did not increase thereafter. In multivariate analysis, the probability of liver disease was independently associated with history of meconium ileus (P = 0.001) and pancreatic insufficiency (P = 0.004). CFTR mutations and severity of pulmonary disease were not associated with liver disease. Cirrhosis occurred in 19 (7.8%) patients at a median age of 10 years, and liver transplantation was required in five patients.. This study shows that CF related-liver disease occurs mainly in the first decade of life with a prevalence of 41% of patients at 12 years of age. A history of meconium ileus and pancreatic insufficiency are predictive of liver disease. Preventive treatment with ursodesoxycholic acid could be considered in patients with meconium ileus.

Topics: Adolescent; Age Distribution; Child; Child, Preschool; Cohort Studies; Cystic Fibrosis; Disease Progression; Exocrine Pancreatic Insufficiency; Female; Humans; Ileus; Incidence; Infant; Liver Diseases; Longitudinal Studies; Male; Meconium; Prevalence; Prognosis; Survival Analysis

To determine the incidence of cystic fibrosis (CF) in neonates with intestinal obstruction (NIO) secondary to meconium ileus (MI), jejunoileal atresia (JA), meconium plug syndrome (MPS), volvulus (V), and meconium peritonitis (MP) and analyze the correlation of ultrasonographic (US) signs with CF in NIO with a prenatal diagnosis of intestinal anomaly, a prospective analysis of different types of NIO from 1990 to 1998 was undertaken. Immunoreactive trypsin measurement, genetic studies, and sweat tests were performed to confirm or rule out CF. Cases with prenatal diagnosis were analyzed for gestational age, dilated bowel, ascites, hyperechoic bowel, and calcifications. Of 80 neonates, 19 (24%) had CF: 2/33 (6%) JA, 6/14 (43%) MPS, 1/14 (7.1%) MP, 10/10 (100%) MI, and 0/9 V. Thirty (37.5%) had a prenatal diagnosis of an intestinal anomaly. The overall incidence of CF in NIO with a prenatal diagnosis of intestinal anomaly was 4/30 (13%), or 333 times the estimated risk of CF in the general population. A hyperechoic pattern with dilated bowel was associated with higher specificity for CF: 3/3 cases (100%), followed by hyperechoic bowel with ascites: 3/4 cases (75%). All babies with any type of NIO should thus be screened for CF. Prenatal screening for CF should be indicated in all pregnancies with US patterns of specific intestinal disorders.

Topics: Cystic Fibrosis; Female; Fetal Diseases; Humans; Incidence; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Pregnancy; Prenatal Diagnosis; Prospective Studies

Fetal small bowel obstruction is usually diagnosed by sonography in the late second or early third trimester. We report two such cases of different etiology: a case of meconium ileus due to cystic fibrosis and a case of intestinal atresia. The only sonographic finding that allowed differentiation between them was the echogenic bowel in the case of cystic fibrosis.

Topics: Adult; Cystic Fibrosis; Fatal Outcome; Female; Fetal Diseases; Gestational Age; Humans; Intestinal Atresia; Intestinal Obstruction; Intestine, Small; Meconium; Pregnancy; Ultrasonography, Prenatal

Topics: Cystic Fibrosis; Diagnosis, Differential; Humans; Ileus; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Physical Examination; Risk Assessment; Scrotum; Sensitivity and Specificity; Vas Deferens

Although its pathogenesis remains still unknown, fibrosing colonopathy (FCP) is considered to be the result of prolonged treatment by high doses of pancreatic enzyme preparations, in a small proportion of patients who present with cystic fibrosis (CF). We present the case of a newborn with meconium ileus (treated by conservative measures), in which, at the age of 3 weeks, the features of intestinal obstruction made necessary the removal of 15 cm of the proximal large intestine. Macroscopical and especially microscopical appearances typical for FCP were found, despite the absence of any enzymatic treatment. These findings raised the suspicion of CF, which was confirmed 4 weeks later at necropsy by the presence of characteristic pancreatic lesions. This case and another similar report in the literature suggest that the mechanism of FCP must be linked with the disease itself, at least in some patients. Thus, for us, FCP is not a "closed subject" and we sustain the importance of continuing studies, which will shed light on its etiopathogenesis.

Topics: Colon; Colonic Diseases; Cystic Fibrosis; Dietary Supplements; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Pancreatin

A female neonate developed abdominal distension with vomiting. She was suffering from meconium ileus and cystic fibrosis.

Topics: Abdomen; Cystic Fibrosis; Female; Humans; Ileal Diseases; Ileum; Infant, Newborn; Intestinal Obstruction; Meconium; Vomiting

The objective of the present study was to determine the possible prognostic factors which may explain the difference in the survival of patients with cystic fibrosis (CF) with and without meconium ileus. Over a period of 20 years, 127 patients with CF, whose diagnosis was confirmed by typical clinical characteristics and altered sweat chloride levels, were studied retrospectively. The patients were divided into two groups: group 1 consisted of patients who presented CF and meconium ileus (N = 9), and group 2 consisted of patients with CF without meconium ileus (N = 118). The characteristics studied were based on data obtained upon admission of the patients using a specific protocol. Demographic, clinical, nutritional and laboratory data were obtained. The genotype was determined in 106 patients by PCR. Survival was analyzed using the Kaplan-Meier method. The median follow-up period was 44 months. A statistically significant difference was observed between the groups studied regarding the following variables: age at diagnosis and weight and height z scores. The presence of meconium ileus was associated with an earlier diagnosis; these patients had greater deficits in height and weight at the time of diagnosis and at the end of the study. The estimated probability of survival for patients with CF without meconium ileus was 62 +/- 14% and for those with meconium ileus 32 +/- 18%. Patients with CF and meconium ileus presented a poor nutritional status at diagnosis and a lower survival rate compared to the general CF population.

Topics: Chi-Square Distribution; Cystic Fibrosis; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Prognosis; Retrospective Studies; Survival Rate

The incidence of cystic fibrosis (CF) is very rare in Japanese, while it is frequent in Caucasians. Here we report on three Japanese cases of CF. One of the patients had consanguineous parents. All three patients initially developed meconium ileus, and hepatobiliary and pancreatic changes became more severe as age increased. The DeltaF508 mutation, the most frequent mutation associated with CF in Caucasians, was not found in these patients. To evaluate the relationship between the severity of hepatic lesions and a history of meconium ileus, we examined hepatic lesions in the present three cases, and we reviewed 22 Japanese autopsied cases of CF in the literature. No correlation was found between the incidence of biliary cirrhosis and a history of meconium ileus, because the cases with meconium ileus showed a high mortality during the neonatal period, before biliary cirrhosis developed. The high incidence of meconium ileus in Japanese CF patients may relate to a clinically severe phenotype and reflect a different genetic background between Caucasians and Japanese.

Topics: Adolescent; Autopsy; Child, Preschool; Consanguinity; Cystic Fibrosis; Fatal Outcome; Female; Humans; Infant; Intestinal Obstruction; Japan; Liver; Liver Cirrhosis, Biliary; Male; Meconium; Pancreas; United States

The present study was designed to compare the clinical course of children diagnosed with cystic fibrosis (CF) in infancy due to the presence of meconium ileus (MI) with children diagnosed by way of a newborn screening programme (non-MI). A matched case-control study design was used. Matching was performed on the basis of sex and date of birth. All children born in New South Wales, Australia after 1980 and who had attended the CF clinic at The Children's Hospital at Westmead since diagnosis were included as possible cases or controls. Parameters pertaining to the clinical course were compared in 39 matched pairs. MI children had a significantly worse pulmonary status. The forced expiratory volume in one second was 16.3 +/- 5.2% higher (p<0.001, n=21 pairs) and the forced vital capacity value 10.5 +/- 4.7%, higher (p<0.05, n=21 pairs) in non-MI children. The difference between the pairs (18.6 +/- 4.4 MI and 20.5 +/- 3.4 non-MI) in the Shwachman chest radiograph score was statistically significant (p<0.05, n=39 pairs). There were no significant differences in any other assessed parameters, such as height, weight, the presence of liver function abnormalities, the frequency of hospitalization or airway microbial colonization. Meconium ileus may be an early indication of a more severe phenotype of cystic fibrosis. This was suggested by the significantly lower pulmonary function found in children with a history of meconium ileus compared to age- and sex-matched children who did not have meconium ileus.

Topics: Case-Control Studies; Child; Cystic Fibrosis; Female; Genotype; Humans; Intestinal Obstruction; Male; Meconium; Nutritional Status; Respiratory Mechanics

The Na+-dependent amino acid transporter named ATB(0) was previously found to be located in 19q13.3 by fluorescence in situ hybridisation. Genetic heterogeneity in the 19q13.2-13.4 region, syntenic to the Cystic Fibrosis Modulator Locus 1 (CFM1) in mouse, seemed to be associated to the intestinal phenotypic variation of cystic fibrosis (CF). We performed fine chromosomal mapping of ATB(0) on radiation hybrid (RH) panels G3 and TNG. Based on the most accurate location results from TNG-RH panel, mapping analysis evidenced that ATB(0) is localised between STS SHGC-13875 (D19S995) and STS SHGC-6138 in 19q13.3, that corresponds with the immediately telomeric/distal segment of the strongest linkage region within the human CFM1 (hCFM1) syntenic region. Regarding to the genomic structure and exon organisation, our results show that the ATB(0) gene is organised into eight exons. The knowledge of the genomic structure allowed us to perform an exhaustive mutational analysis of the gene. Evaluation of the possible implication of ATB(0) in the intestinal phenotype of CF was performed on the basis of the functional characteristics of the encoded protein, its apparent relevance to meconium ileus (MI) and position in relation to the hCFM1 syntenic region. We have analysed this gene in samples from CF patients with and without MI. Several sequence variations in the ATB(0) gene were identified, although none of them seemed to be related to the intestinal phenotype of CF. Even though no particular allele or haplotype in ATB(0) appears to be associated to CF-MI disease, new SNPs identified should be useful in segregation and linkage disequilibrium analyses in families affected by other disorders caused by the impairment of neutral amino acid transport.

Topics: Alleles; Amino Acid Transport System ASC; Chromosome Mapping; Chromosomes, Human, Pair 19; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; DNA; DNA Mutational Analysis; Exons; Gene Frequency; Genes; Genotype; Humans; Intestinal Obstruction; Intestines; Introns; Meconium; Minor Histocompatibility Antigens; Mutation; Phenotype; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Radiation Hybrid Mapping

This study was pursued as an extension of a randomized clinical investigation of neonatal screening for cystic fibrosis (CF). The objective was to determine if CF patients with meconium ileus (MI) were more likely to be malnourished compared with those without MI who were diagnosed during early infancy through neonatal screening.. Nutritional status was evaluated from early infancy to 13 years of age based on anthropometric, biochemical, and dietary assessments.. MI patients (n = 32) were smaller at birth (3117 g compared with 3413 g) and were shorter (22nd percentile compared with 48th percentile) and thinner (24th percentile compared with 49th percentile) compared with non-MI early diagnosed patients (n = 50) up to 13 years of age. Poor growth was particularly evident in 26 MI patients who required surgery for MI (height and weight at the 20th percentile), whereas those treated without surgery (n = 6) showed better height (45th percentile) and weight (37th percentile). Abnormal essential fatty acid profiles were significantly more prevalent in MI compared with non-MI early-diagnosed patients before 3 years of age. Daily intakes of calorie (130% compared with 111% recommended dietary allowances) and protein (339% compared with 279% recommended dietary allowances) were higher but the percentage of fat (37% compared with 38%) and linoleic acid (4.5% compared with 4.7%) in the diet were similar between the two groups.. These results demonstrated a clear association of MI with malnutrition in CF. The observed poor growth among our MI patients was not because of poor dietary intakes, but was related to surgical treatment for MI and poor essential fatty acid status. These findings present new challenges regarding the optimal medical treatment and nutritional intervention for CF patients with MI.

Topics: Case-Control Studies; Cystic Fibrosis; Dietary Fats; Fatty Acids, Essential; Female; Growth; Humans; Infant; Intestinal Obstruction; Male; Meconium; Neonatal Screening; Nutrition Disorders; Nutritional Status; Registries

The T-tube ileostomy was first used at Texas Children's Hospital in 1959. The purpose of this study is to update the experience since the initial report of this technique in 1981.. A database of 448 patients with cystic fibrosis (CF) seen in the authors' institution was used to identify 83 patients (18.5%) who presented with meconium ileus. The clinic and hospital charts of these patients were reviewed retrospectively to identify patients who had undergone placement of a T-tube ileostomy.. Surgery was performed in 60 of 83 patients for complications of meconium ileus or failure to evacuate the meconium after a contrast enema. Of these patients, 21 of 60 (35%) underwent placement of a T-tube ileostomy. An additional 8 patients were identified who underwent placement of a T-tube ileostomy but were not included in the CF database, for a total of 29 patients who have been treated with T-tube ileostomy since 1959 at Texas Children's Hospital. Five patients were excluded from analysis because of insufficient data or misdiagnosis. One of the 24 patients in the series died of complications of prematurity. A total of 20 of 23 patients had resolution of their meconium ileus after T-tube irrigation with n-acetylcysteine or pancreatic enzymes. Three patients required additional surgery to relieve persistent bowel obstruction. All patients had the T-tube removed within the first 8 weeks after surgery. Two patients required subsequent repair of an incisional hernia. There were otherwise no complications of this procedure, with an average follow-up of 11.5 years.. In patients with uncomplicated meconium ileus unrelieved by contrast enema, the T-tube ileostomy is an effective and safe treatment.

Topics: Cystic Fibrosis; Humans; Ileostomy; Infant, Newborn; Intestinal Obstruction; Meconium

Topics: Animals; Chromosomes, Human, Pair 19; Cystic Fibrosis; Humans; Intestinal Obstruction; Meconium; Mice

Topics: Adenine; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Exons; Guanine; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Sequence Deletion

The variability in intestinal disease severity in patients with cystic fibrosis (CF) has been associated with the expression of secondary modifier genes. The locus containing these modifier genes in CF patients is syntenic with a modifier locus previously associated with survival in CF transmembrane conductance regulator-knockout mice. These previous studies showed that the proportion of CF mice that survive weaning (mildly affected mice) versus those that succumb to obstruction of the small intestine (severely affected) is related to their genetic background and the expression of modifier genes. In the present work, we show that the basal transepithelial chloride transport measured across jejuna obtained from mice of mixed genetic backgrounds segregates into two groups, some mice having low and others having high, near normal chloride transport. Further, we report that the segregation of mice with respect to intestinal chloride transport correlates with their predicted segregation on the basis of genotype at the "modifier locus." These findings support the hypothesis that intestinal disease modification in CF mice correlates with improved chloride transport through non-CF transmembrane conductance regulator chloride channels.

Topics: Animals; Animals, Newborn; Animals, Suckling; Chloride Channels; Chlorides; Crosses, Genetic; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Diet; Epithelium; Intestinal Mucosa; Intestinal Obstruction; Ion Transport; Jejunum; Meconium; Membrane Potentials; Mice; Mice, Inbred BALB C; Mice, Knockout; Severity of Illness Index

Topics: Calcinosis; Cystic Fibrosis; Down Syndrome; Female; Fetal Diseases; Humans; Intestines; Meconium; Pregnancy; Ultrasonography, Prenatal

Topics: Child; Chromosome Mapping; Chromosomes, Human, Pair 19; Cystic Fibrosis; Forced Expiratory Volume; Genetic Markers; Humans; Intestinal Obstruction; Meconium; Microsatellite Repeats; Nuclear Family; Polymorphism, Genetic

Cystic fibrosis (CF) is an autosomal disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). Neonatal meconium ileus (MI) occurs in 10-20 percent of newborns with CF. The purpose of this study was to determine the allelic frequencies of the CF mutation in French patients with and without MI and the incidence of MI in 7 homozygotes or compound heterozygotes for mutation of the CFTR gene. Our study confirms the positive association between delta F508, the most frequent CF mutation, G542X mutation and MI and a negative association with G551D.

Topics: Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; France; Humans; Incidence; Infant, Newborn; Intestinal Obstruction; Meconium; Mutation; Registries; Retrospective Studies; Risk Factors

It is unclear whether children with cystic fibrosis (CF) who present with neonatal meconium ileus have a different long-term outcome from those presenting later in childhood with pulmonary complications or failure to thrive. We examined a cohort of patients with meconium ileus, and compared their long-term outcome with children who had CF without meconium ileus and neonates who had meconium obstruction without CF (meconium plug syndrome).. Comparative study using retrospective and follow-up interview data.. Group 1 consisted of 35 surviving CF patients who presented with meconium ileus between 1966 and 1992. Two control groups were also studied: 35 age- and sex-matched CF patients without meconium ileus (group 2), and 12 infants presenting with meconium plug syndrome during the same time period (group 3).. Pulmonary, gastrointestinal, nutritional, and functional status were reviewed, and surgical complications were recorded.. Mean follow-up was 12.6 +/- 6, 12.6 +/- 6, and 9. 3 +/- 4 years in groups 1, 2, and 3, respectively. Patients without CF (group 3) demonstrated better growth and functional status, and had a lower incidence of pulmonary and gastrointestinal problems. Although the presence of meconium ileus among CF patients was associated with an earlier diagnosis, there were no significant differences between groups 1 and 2 with respect to hepatobiliary, nutritional, functional, or respiratory status. Meconium ileus was associated with a higher risk of meconium ileus equivalent (20% vs 6%), although this difference was not statistically significant. Long-term surgical complications (adhesive small bowel obstruction and blind loop syndrome) were seen in 27% of children with meconium ileus; there were no long-term surgical complications in groups 2 or 3, because these infants did not have any neonatal surgical procedures. Children presenting with complicated meconium ileus had a higher rate of long-term surgical complications than those with uncomplicated meconium ileus (36% vs 17%), and those managed with resection or enterostomy had more complications than those treated by enterotomy and lavage (33% vs 0%).. Long-term outcome is similar in CF patients who present with meconium ileus and those who do not, except for a slightly higher incidence of meconium ileus equivalent, and a significantly higher rate of surgical complications. The risk of surgical complications is highest in those presenting with complicated meconium ileus and those undergoing resection or enterostomy. Patients with meconium obstruction who do not have CF have an excellent long-term prognosis. This information will be useful in counseling the families of infants presenting with neonatal meconium obstruction.

Topics: Cystic Fibrosis; Female; Follow-Up Studies; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Postoperative Complications; Prognosis; Retrospective Studies

Topics: Adolescent; Alleles; Child; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Female; Genotype; Humans; Intestinal Obstruction; Male; Meconium

Meconium ileus (MI) affects 15% of neonates with cystic fibrosis (CF). The authors reviewed the management and outcome of 51 neonates presenting to a single institution between 1976 and 1995 with MI secondary to CF. Clinical presentation included abdominal distension (96%), bilious vomiting (49%), and delayed passage of meconium (36%). A family history of CF was present in 4 cases (8%). Twenty-three neonates presented with MI and evidence of volvulus, atresia, or perforation (complicated MI). Of these, 16 underwent stoma formation, 1 appendicectomy, and 6 resection with primary anastomosis. Twenty-eight neonates presented with uncomplicated MI. Of these, 11 were managed non-operatively by Gastrografin enema (10) or enteral N-acetylcysteine (1). The remainder required stoma formation (15) or bowel resection with primary anastomosis (2). Early postoperative complications occurred in 2 neonates (4%). In this hospital the 1-year survival for this condition has increased from 49% (1953-1970) to 98% (1976-1995) irrespective of the surgical procedure performed or the presence of volvulus, atresia, or perforation. In our experience, bowel resection with primary anastomosis is as safe as stoma formation and is associated with a reduced length of initial hospital stay.

Topics: Anastomosis, Surgical; Cystic Fibrosis; Enterostomy; Female; Follow-Up Studies; Humans; Incidence; Infant, Newborn; Intestinal Obstruction; Intestine, Small; Intraoperative Complications; Laparotomy; London; Male; Meconium; Postoperative Complications; Retrospective Studies; Survival Rate

Topics: Cyanosis; Cystic Fibrosis; Fatal Outcome; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Sulfhemoglobinemia

Topics: Alleles; Amino Acid Substitution; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; DNA Mutational Analysis; Exons; Female; Humans; Infant, Newborn; Intestinal Obstruction; Meconium; Mutation, Missense

The variable clinical manifestations of cystic fibrosis (CF) suggest the influence of modifier genes. For example, meconium ileus is present in approximately 10-15% of neonates with cystic fibrosis; however, the genetic and, or environmental factors that determine whether an individual will develop this complication have not been determined. We propose the HFE gene as a candidate modifier locus for CF based on (1) the suggestion of an association between the HLA loci and CF phenotypes; (2) the location of the HFE gene near the HLA loci and; (3) the similarity between the gastrointestinal manifestations of hereditary hemochromatosis and CF. We have determined the frequency of the C282Y and H63D mutations in a group of 89 CF patients who were homozygous for delta F508 and for whom meconium ileus status was known. The carrier frequency of C282Y among the CF patients with meconium ileus was significantly different from that of our unaffected control group (19.4% versus 7.7%). However, the difference between the meconium ileus and the nonmeconium ileus groups was not significant (19.4% versus 10.3%). There was no difference in the frequency of the H63D among the three groups that were studied. These data are suggestive of a relationship between the development of meconium ileus or other gastrointestinal diseases in CF and the HFE gene. Further study of a larger group of patients is warranted.

Topics: Adult; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Epistasis, Genetic; Female; Genetic Predisposition to Disease; Genotype; Hemochromatosis; Humans; Intestinal Obstruction; Male; Meconium; Sequence Deletion

Cystic fibrosis is associated with an inspissated bile syndrome producing cholestasis secondary to plugging of macroscopically normal bile ducts. In extreme neonatal forms, with early profound intrahepatic cholestasis, the process can be associated with a marked decrease in ductal diameter, varying from hypoplasia to atresia. From 1990 to 1995 three infants were identified with cystic fibrosis, persistent jaundice, and complete absence of biliary excretion despite expectant and conservative treatment including choleretics and surgical biliary irrigation. Abdominal ultrasounds showed contracted gallbladders and no evidence of dilated ducts. Liver biopsy results in two infants showed portal fibrosis, paucity of bile ducts, and minimal inflammation. The third infant had moderate inflammation, bile duct replication, and plugging. Two infants had undergone intestinal resection followed by hyperalimenation for complications of meconium ileus in the newborn period. Surgical exploration was undertaken at 7 to 12 weeks of age. Gross findings were typical of biliary atresia with microgallbladders and nonpatency of the cystic duct. Cholangiograms failed to document ductal patency in two patients who were then treated with a Kasai portoenterostomy. The third infant had patent hypoplastic ducts and underwent only biliary irrigation. Although bile flow was transiently achieved, jaundice recurred, and at reexploration at 16 weeks of age a Kasai poroenterostomy was performed. Histological review of the biliary specimens showed microscopically patent ducts in two patients and proximal patency and distal atresia in the third. All the ducts had mural fibrosis with cystic changes. Bile drainage was achieved in each instance, although in one patient with hypoplastic ducts scant output of highly concentrated bile proved insufficient to arrest progressive liver failure. The subsequent two patients responded with resolution of hyperbilirubinemia and normalization of liver function. They remain free of biliary complications at 30 and 40 months postoperatively. This manifestation of cystic fibrosis in infants is suggested by prolonged jaundice unresponsive to choleretics, nondilated bile ducts and gallbladder on ultrasound, absent biliary excretion on nuclear scan, and characteristic liver biopsy. Exploration is warranted, and discovery of atrophic bile ducts may be best managed with reconstruction.

Topics: Biliary Atresia; Cystic Fibrosis; Fatal Outcome; Female; Gallbladder; Hepatic Duct, Common; Humans; Infant; Intestinal Obstruction; Jaundice; Male; Meconium; Portoenterostomy, Hepatic

Topics: Adolescent; Child; Child, Preschool; Cystic Fibrosis; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Survival Analysis; Survival Rate; Treatment Outcome

There is confusion in the radiological literature as to the site of abdominal calcification in cystic fibrosis (CF) with meconium ileus (MI) in neonates.. To correlate the site of radiographic abdominal calcification with histologic and operative findings.. A review of clinical, radiographic, surgical and histologic data in 58 neonates with CF and MI.. Abdominal calcification was identified in 15 (26 %) neonates: on an abdominal radiograph in 8 (13 %), at laparotomy in 3 and histologically in 10 (37 %) of the 27 resected specimens. The radiographic pattern of calcification varied from small specks in three cases to small, better-defined areas in two. In the other three patients, the calcification was more extensive and curvilinear. Histologically, calcification was found to be intramural in ten resected specimens, of which two also had intraluminal and one serosal calcification. The more extensive, curvilinear calcification identified radiographically correlated with histologically proven dystrophic intramural calcification. The less marked flecks or discrete areas of radiographic calcification may represent intramural, serosal or intraluminal calcification.. Intramural calcification is common microscopically in CF with MI. Extensive radiographic calcification in these patients is more likely to represent intramural rather than serosal or intraluminal calcification.

Topics: Calcinosis; Cystic Fibrosis; Female; Humans; Infant, Newborn; Intestinal Obstruction; Intestines; Male; Meconium; Radiography

To verify to what extent mutation analysis on blood spot could improve cystic fibrosis neonatal screening in an area with high allelic heterogeneity, we designed a special protocol. Spot trypsin estimation at birth, trypsin re-testing after 1 month, meconium lactase testing and mutation analysis of delta F508, R1162X and N1303K, were retrospectively clustered according to different patterns (trypsin/lactase/mutation; trypsin/lactase/re-testing; trypsin/mutation) and compared. The programme, which lasted 2 years (1993-94) and covered most of North-eastern Italy, included 95,553 screened newborns. Thirty-four affected babies were detected by screening and one by meconium ileus (incidence 1/2730). The combined use of trypsin, lactase and mutation analysis in cystic fibrosis neonatal screening permits a better sensitivity compared to the two other combinations (34 diagnoses vs 32 in both cases). Moreover, the higher specificity of the former method (false positives 42 vs 148) allows a reduction of recalls, which cause considerable anxiety. We confirm in trypsin-positive newborns an increased frequency of cystic fibrosis heterozygotes (1/17).

Topics: beta-Galactosidase; Clinical Protocols; Cystic Fibrosis; DNA Mutational Analysis; Genetic Heterogeneity; Genetic Testing; Humans; Infant, Newborn; Italy; Lactase; Meconium; Neonatal Screening; Reproducibility of Results; Retrospective Studies; Trypsin

The sonographic finding of hyperechoic or dilated fetal bowel raises suspicion of a number of prenatal disorders including meconium ileus (MI), meconium peritonitis, congenital infection, neoplasm, or chromosomal trisomy. These findings may also represent transient normal variants. The following case report details the evaluation of one pregnancy with abnormal intestinal echogenic findings on serial sonograms (US), to demonstrate inherent diagnostic difficulties in such a case. A diagnostic algorithm is presented to aid in the proper use of US and DNA mutation analysis for cystic fibrosis (CF), so that the cause of an abnormal abdominal US can be established earlier and more accurately than suggested by previous management schemes. Earlier fetal diagnosis may help to anticipate postnatal problems associated with CF/MI, and therefore provide more optimal clinical management of the affected fetus.

Topics: Adult; Algorithms; Cystic Fibrosis; DNA Mutational Analysis; Female; Humans; Intestinal Obstruction; Meconium; Pregnancy; Prenatal Diagnosis; Sensitivity and Specificity; Ultrasonography

Of 36 neonates with meconium ileus secondary to cystic fibrosis treated over a 10-year period, twenty-one (58%) had simple uncomplicated disease while fifteen (42%) had complications which included perforation (5), volvulus (6) and atresia (5). Gastrografin enema was employed in 20 infants with relief of obstruction in 8 (40%). Operative procedures consisted of resection and primary anastomosis in seventeen patients, stomas were fashioned in six, three had an enterotomy with irrigation only and two had Bishop-Koop enterostomy. Post-operative complications developed in 5 (18%) of these 28 patients. The overall survival rate was 97%. The one death occurred in an infant with short bowel syndrome, patent ductus arteriosus, hydrocephalus and pulmonary damage. There were eight additional patients who had meconium obstruction in the absence of cystic fibrosis.

Topics: Cystic Fibrosis; Diatrizoate Meglumine; Enema; Enterostomy; Female; Humans; Ileal Diseases; Infant, Newborn; Intestinal Atresia; Intestinal Obstruction; Intestinal Perforation; London; Male; Meconium; Retrospective Studies; Survival Rate

We have generated a mouse carrying the human G551D mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR) by a one-step gene targeting procedure. These mutant mice show cystic fibrosis pathology but have a reduced risk of fatal intestinal blockage compared with 'null' mutants, in keeping with the reduced incidence of meconium ileus in G551D patients. The G551D mutant mice show greatly reduced CFTR-related chloride transport, displaying activity intermediate between that of cftr(mlUNC) replacement ('null') and cftr(mlHGU) insertional (residual activity) mutants and equivalent to approximately 4% of wild-type CFTR activity. The long-term survival of these animals should provide an excellent model with which to study cystic fibrosis, and they illustrate the value of mouse models carrying relevant mutations for examining genotype-phenotype correlations.

Topics: Animals; Animals, Newborn; Base Sequence; Chlorides; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Disease Models, Animal; DNA Primers; Electrophysiology; Gene Targeting; Genotype; Humans; Intestinal Obstruction; Ion Transport; Meconium; Mice; Mice, Transgenic; Molecular Sequence Data; Nasal Cavity; Phenotype; Point Mutation

Gastrointestinal complications of cystic fibrosis are becoming more common because patients with cystic fibrosis are living longer. There are 227 cystic fibrosis patients in Norway today, almost half of whom are more than 18 years old. Meconiumileus-equivalent is a complication which increases with age. It is a term used to describe partial or complete intestinal obstruction occurring in patients with cystic fibrosis. It results from abnormally viscid mucofaeculent material in the terminal ileum and right proximal colon. Some patients may experience acute complete obstruction, but most of them suffer from chronic partial obstruction, with recurring colicly abdominal pain and some distension. Of 70 adult cystic fibrosis patients at Aker hospital over a seven year period, 26% had symptoms and signs of this disorder. Conservative treatment is preferable, and surgery should be avoided.

Topics: Abdomen, Acute; Adult; Cystic Fibrosis; Female; Humans; Intestinal Obstruction; Male; Meconium; Radiography

Between 1960 and 1994 cystic fibrosis was found in nine out of 1474 infants investigated for neonatal cholestasis. Four had delay in passing meconium. In all patients cholestatic jaundice was present during the first 48 hours and in three patients cholestasis was complete, mimicking biliary atresia. Serum cholesterol concentrations were normal in all but two children. Sweat chloride was repeatedly above 95 mmol/l in all instances. Three children had another condition enhancing the risk of cholestasis (alpha1-antitrypsin deficiency, hypopituitarism, perinatal asphyxia, and total parenteral nutrition). Liver histology displayed portal fibrosis and inflammation with bile duct proliferation; mucous plugs in bile ducts were observed in only one patient. Only one child died from cirrhosis. These results indicate that cystic fibrosis is not a major cause of neonatal cholestasis. However early signs of intestinal obstruction and low concentrations of serum cholesterol may indicate cystic fibrosis, regardless of liver histology. Neonatal cholestasis has no prognostic value concerning evolution to cirrhosis.

Topics: Cholestasis; Cystic Fibrosis; Female; Humans; Infant; Infant, Newborn; Jaundice, Neonatal; Liver; Male; Meconium

Cystic fibrosis (CF), the most common lethal autosomal recessive disease in white populations, is characterized by dysfunctional chloride ion transport across epithelial surfaces. Although recurrent pulmonary infections and pulmonary insufficiency are the principal causes of morbidity and death, gastrointestinal symptoms commonly precede the pulmonary findings and may suggest the diagnosis in infants and young children. The protean gastrointestinal manifestations of CF result primarily from abnormally viscous luminal secretions within hollow viscera and the ducts of solid organs. Bowel obstruction may be present at birth due to meconium ileus or meconium plug syndrome. Complications of meconium ileus include volvulus, small bowel atresia, perforation, and meconium peritonitis with abdominal calcifications. Older children with CF may present with bowel obstruction due to distal intestinal obstruction syndrome or colonic stricture, and tenacious intestinal residue may serve as a lead point for intussusception or cause recurrent rectal prolapse. Radiologic studies often demonstrate thickened intestinal mucosal folds in older children and uncommonly show colonic pneumatosis, peptic esophageal stricture due to gastroesophageal reflux, and duodenal ulcer. Appendicitis due to inspissated secretions is uncommon. Obstruction of ducts and ductules produces exocrine pancreatic insufficiency, pancreatitis, cholestasis, cholelithiasis, and cirrhosis with portal hypertension. On imaging studies, the pancreas is commonly small and largely replaced by fat, sometimes displays calcifications, and is rarely replaced by macrocysts. Radiologic features of hepatobiliary disease include an enlarged radiolucent liver from steatosis, gallstones, a shrunken nodular liver, splenomegaly, and portosystemic collateral vessels. With the improved survival of CF patients, an increased risk for developing gastrointestinal carcinomas has been established, many occurring as early as the 3rd decade.

Topics: Adult; Biliary Tract Diseases; Child; Cystic Fibrosis; Digestive System Diseases; Gastrointestinal Diseases; Humans; Infant, Newborn; Intestinal Obstruction; Liver Diseases; Meconium; Pancreatic Diseases; Tomography, X-Ray Computed; Ultrasonography

Topics: Child, Preschool; Colon; Cystic Fibrosis; Female; Humans; Ileum; Intestinal Obstruction; Meconium; Ultrasonography

In nine patients with meconium peritonitis prenatal ultrasonographic findings were correlated with the clinical course and outcome. Ultrasound findings included polyhydramnion (n = 4), ascites (n = 4), disseminated (n = 3) and solitary echogenic areas (n = 1), echopoor cystic areas (n = 3) and echogenic-echopoor solitary areas (n = 1). Intra-abdominal calcifications were found in five patients before delivery. Eight neonates survived and were subsequently followed up, one fetus died in utero. Four of the eight survivors required surgery, namely for meconium ileus (n = 1), perforation secondary to intestinal volvulus (n = 2) and inguinal hernia associated with prenatal rubella infection (n = 1). Three patients were healthy, one patient required drainage of pleural effusion and respirator therapy but recovered without further problems. Cystic fibrosis was diagnosed in the patient with meconium ileus. Postnatal outcome could not be predicted from the prenatal sonographic findings.

Topics: Adult; Calcinosis; Cesarean Section; Cystic Fibrosis; Female; Follow-Up Studies; Gestational Age; Humans; Infant, Newborn; Intestinal Obstruction; Intestinal Perforation; Meconium; Peritonitis; Polyhydramnios; Pregnancy; Ultrasonography, Prenatal

Meconium ileus is the earliest clinical manifestation of cystic fibrosis. We report 22 neonates with meconium ileus who had clinical evidence of cystic fibrosis. Patients were categorized as simple with inspissated meconium in the ileum with dilated loops proximally or complicated with volvulus or atresia and/or a perforation resulting in meconium peritonitis. Histopathology of the surgically resected specimens of small bowel revealed lesions typical of cystic fibrosis. Genetic studies were performed on all subjects, this study analyzes the usefulness in the detection of delta F508 mutation in formalin-fixed paraffin-embedded tissues obtained from patients with meconium ileus, ten of whom had the delta F508/delta F508 mutation.

Topics: Cystic Fibrosis; Female; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Mutation; Polymerase Chain Reaction; Retrospective Studies

Topics: Adolescent; Child; Child, Preschool; Comorbidity; Cystic Fibrosis; Female; Humans; Incidence; Intestinal Obstruction; Liver Diseases; Liver Function Tests; Male; Meconium; Prevalence; Sweden

Topics: Adult; Cystic Fibrosis; Female; Fetal Diseases; Gestational Age; Humans; Infant, Newborn; Intestinal Obstruction; Meconium; Peritonitis; Polyhydramnios; Pregnancy; Ultrasonography, Prenatal

We have observed five children with cystic fibrosis, who presented over 2 months, with meconium ileus equivalent that failed to respond to medical management. At surgery, four had a stricture in the ascending colon, and all had histopathological changes of post-ischaemic ulceration repair, with mucosal and submucosal fibrosis. The only common change in the management of these children was a switch from conventional enteric-coated pancreatic enzymes to high-strength products 12-15 months before presentation.

Topics: Abdominal Pain; Adolescent; Child; Child, Preschool; Colon; Colonic Diseases; Constriction, Pathologic; Cystic Fibrosis; Fibrosis; Humans; Intestinal Obstruction; Lipase; Male; Meconium; Pancreatic Extracts; Pancreatin; Pancrelipase

Recently we have created a mouse model of cystic fibrosis (CF) by insertional gene targeting to exon 10. In common with CF subjects, this model displays a low incidence of meconium ileus. This contrasts strikingly with the very high level of fatal intestinal obstruction in the three other CF mouse models so far described. We investigate here the molecular basis of this difference in phenotype. We show that the partial duplication consequent upon insertional gene targeting allows exon skipping and aberrant splicing to produce normal Cftr mRNA, but at levels greatly reduced compared with wild-type mice. Furthermore, instead of the predicted mutant Cftr transcript, a novel mRNA is produced that utilizes cryptic splice sites in the disrupting plasmid sequence. However, we have previously shown that these mice display the ion transport defect characteristic of CF, and mutant animals can be distinguished from their normal littermates on this basis. Consistent with this, residual CFTR function has recently been observed for several "mild" mutations in CF individuals who display pancreatic sufficiency but still develop lung disease. We conclude that (i) residual wild-type mRNA in the exon 10 insertional mutant mouse ameliorates the severity of the intestinal phenotype observed in the absolute "null" CF mice, (ii) the presence of low-level residual wild-type Cftr mRNA does not correct the CF ion transport defect, and (iii) the long-term survival of this insertional mutant mouse provides the opportunity to address the factors important in development of lung disease.

Topics: Animals; Animals, Newborn; Base Sequence; Cloning, Molecular; Cystic Fibrosis; Disease Models, Animal; DNA, Complementary; Exons; Gene Expression; Intestinal Obstruction; Lung; Meconium; Mice; Mice, Mutant Strains; Molecular Sequence Data; Mutagenesis, Insertional; Polymerase Chain Reaction; RNA, Messenger

This study analyzes the usefulness of the polymerase chain reaction technique in the detection of delta F508 mutation in 11- to 25-yr-old formalin-fixed paraffin-embedded tissues obtained from the autopsy of 38 cystic fibrosis patients (nine with meconium ileus). Two different pairs of oligonucleotide primers were used: C16 B/C16 D that amplify 98 and/or 95 bp and FQ1/FQ2 that amplify 50 and/or 47 bp. After two independent rounds of polymerase chain reactions with the two sets of primers, amplification products were obtained in 67.5% of the cases when using C16 B/C16 D primers and in all cases when using FQ1/FQ2 primers. Fifty percent of the chromosomes analyzed in the 29 patients without meconium ileus had the delta F508 mutation, which was present in 13 heterozygous and 8 homozygous patients. The remaining eight cystic fibrosis patients did not carry that mutation. These results are similar to those reported in cystic fibrosis patients from Spain. In the meconium ileus group, we found a higher than expected proportion of delta F508 mutation; all patients showed the delta F508 mutation in at least one chromosome, seven patients (77.8%) being homozygous and two (22.2%) heterozygous. Present results indicate that delta F508 mutation can be detected by polymerase chain reaction in old paraffin-embedded tissues when appropriate primers are used.(ABSTRACT TRUNCATED AT 250 WORDS)

Topics: Base Sequence; Cystic Fibrosis; DNA Mutational Analysis; DNA Primers; Electrophoresis, Agar Gel; Formaldehyde; Humans; Infant, Newborn; Meconium; Molecular Sequence Data; Mutation; Paraffin Embedding; Polymerase Chain Reaction; Retrospective Studies; Tissue Fixation

We prospectively screened for liver disease patients with cystic fibrosis who were more than 3 years of age and who were followed at the cystic fibrosis center of the University of Milan. From January 1991 to December 1992, we screened 189 patients; clinical, biochemical, and echographic abnormalities suggestive of overt liver disease were present in 34 (18%). To define risk factors for the development of liver disease associated with cystic fibrosis, we evaluated the possible role of specific mutations of the CFTR (cystic fibrosis transmembrane regulator) gene and of different clinical and demographic characteristics (sex, pancreatic status, meconium ileus or its equivalent) through a comparison of patients with cystic fibrosis and overt liver disease (n = 34) and those without liver disease (n = 155). Genetic analysis failed to reveal any significant difference in the allele frequencies of defined (delta F508, 1717-1G-A, G542X, N1303K, W1282X, R553X) and undefined mutations of the CFTR gene in the two groups of patients; genotype frequencies were also not significantly different. Pancreatic insufficiency was present in all patients with liver disease and in 87.3% of those without liver disease. A male predominance was found in the group with liver disease. The frequency of meconium ileus or its equivalent was significantly higher in patients with cystic fibrosis and liver disease (35.3%) than in patients without liver disease (12.3%) (p = 0.0025). In the 31 patients with a history of meconium ileus or its equivalent, the following hepatic abnormalities occurred more frequently than in the 155 patients with cystic fibrosis who did not have meconium ileus: hepatomegaly, biochemical abnormalities, heterogeneous echographic pattern of the liver, and microgallbladder. Twenty-four patients with a history of meconium ileus or its equivalent underwent hepatobiliary scintigraphy (with technetium-labeled iminodiacetic acid derivatives), which showed morphologic abnormalities suggestive of impaired biliary drainage in 21 patients and abnormalities in function in 11. The risk of acquiring liver disease was increased almost fourfold in patients with a history of meconium ileus or its equivalent, in comparison with patients who had cystic fibrosis but were unaffected by these complications (odds ratio, 3.9043; 95% confidence interval, 1.666 to 9.149). We conclude that patients with cystic fibrosis and meconium ileus or its equivalent may benefit from prophylactic tre

Topics: Adolescent; Child; Cystic Fibrosis; Exocrine Pancreatic Insufficiency; Female; Genotype; Humans; Intestinal Obstruction; Liver Diseases; Male; Meconium; Mutation; Prospective Studies; Risk Factors; Sex Factors

Topics: Adolescent; Adult; Child; Child, Preschool; Cystic Fibrosis; Female; Humans; Infant; Intestinal Obstruction; Male; Meconium; Risk Factors

Topics: Celiac Disease; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Exocrine Pancreatic Insufficiency; Humans; Infant, Newborn; Intestinal Obstruction; Lung; Male; Meconium; Membrane Proteins; Phenotype; Point Mutation

In order to test whether abnormalities of glycosylation occur in cystic fibrosis (CF), the glycan microheterogeneity of alpha 1-antitrypsin (alpha 1-AT) was studied in serum and meconium from normal individuals and patients with cystic fibrosis, by crossed immunoaffinoelectrophoresis (CIAE) using free Concanavalin A (Con A), Lens culinaris lectin (LCA) and wheat germ agglutinin (WGA). Three main results emerged from this study: (1) modification of glycosylation in serum alpha 1-AT from patients with cystic fibrosis were only significant with free Con A and WGA; this probably results from a reduced synthesis of the bi-antennary side-chains or by their increased catabolism. (2) Differences in isoforms found in alpha 1-AT from normal individuals and patients with CF using free Con A, LCA, were more pronounced in the meconium than in the serum; this may provide a useful test in diagnosis of cystic fibrosis. (3) There was parallelism between the behaviour of alpha 1-AT in serum and meconium from patients with CF using LCA, Con A; this may be explained by different types or levels of disfunction affecting a glycosylation mechanism.

Topics: Adult; alpha 1-Antitrypsin; Concanavalin A; Cystic Fibrosis; Glycosylation; Humans; Immunoelectrophoresis, Two-Dimensional; Infant, Newborn; Lectins; Meconium; Plant Lectins; Polysaccharides; Wheat Germ Agglutinins

The sonographic finding of increased echogenicity within the fetal abdomen presents a diagnostic dilemma, with a differential diagnosis ranging from normal variation to CF. We report the diagnostic evaluation of four cases, two of which were found to be the result of CF. On the basis of this experience, we believe that persistence of an echogenic bowel pattern, especially with bowel dilation, after 20 weeks' gestation should prompt an evaluation for CF. Using DNA analysis, approximately 75% of the cases involving CF can be detected with noninvasive studies of the parents, and confirmation by amniocentesis is performed only in those cases in which both parents are carriers of known mutations.

Topics: Abdomen; Adult; Cystic Fibrosis; DNA; Female; Fetal Diseases; Gestational Age; Humans; Meconium; Polymerase Chain Reaction; Pregnancy; Ultrasonography, Prenatal

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Intestinal Obstruction; Meconium

The glycine-to-aspartic acid missense mutation at codon 551 (G551D), which is within the first nucleotide-binding fold of the cystic fibrosis transmembrane conductance regulator (CFTR), is the third most common cystic fibrosis (CF) mutation, with a worldwide frequency of 3.1% among CF chromosomes. Regions with a high frequency correspond to areas with large populations of Celtic descent. To determine whether G551D confers a different phenotype than does delta F508, the most common CF mutation, we studied 79 compound heterozygotes for G551D/delta F508, from nine centers in Europe and North America. Each subject was matched, by age and sex, with a delta F508 homozygote from the same center. A retrospective cohort analysis was performed on the following outcome parameters: age at diagnosis, sweat chloride, meconium ileus at birth, height, weight, weight for height, FVC, FEV1, chest X-ray score, pseudomonas colonization, pancreatic sufficiency, and Shwachman clinical score. There was less meconium ileus among the G551D/delta F508 compound heterozygotes (relative risk 0.33; 95% confidence interval .13-.86), as well as a trend toward later age at diagnosis of pancreatic insufficiency. No statistically significant difference was found between the groups for any other parameter. These results suggest that the CF genotype can be a predictor of pancreatic and intestinal phenotype. Prenatal counseling for the two genotype groups should differ only with respect to probability of meconium ileus. Clinical outcome (after survival of meconium ileus) for G551D/delta F508 compound heterozygotes and delta F508 homozygotes is indistinguishable; therefore, prognostic counseling should not differ.

Topics: Adolescent; Aspartic Acid; Child; Child, Preschool; Codon; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Glycine; Homozygote; Humans; Infant, Newborn; Intestinal Obstruction; Meconium; Membrane Proteins; Mutation; Risk Factors

Cystic fibrosis results from defects in the gene encoding a cyclic adenosine monophosphate-dependent chloride ion channel known as the cystic fibrosis transmembrane conductance regulator (CFTR). To create an animal model for cystic fibrosis, mice were generated from embryonic stem cells in which the CFTR gene was disrupted by gene targeting. Mice homozygous for the disrupted gene display many features common to young human cystic fibrosis patients, including failure to thrive, meconium ileus, alteration of mucous and serous glands, and obstruction of glandlike structures with inspissated eosinophilic material. Death resulting from intestinal obstruction usually occurs before 40 days of age.

Topics: Animals; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Digestive System; Disease Models, Animal; Exocrine Glands; Gallbladder; Genitalia, Male; Genotype; Growth; Intestinal Obstruction; Liver; Male; Meconium; Membrane Proteins; Mice; Mice, Inbred BALB C; Mice, Inbred C57BL; Mucus; Mutagenesis; Pancreas; RNA, Messenger; Salivary Glands

Cystic fibrosis (CF) is the most common fatal genetic disease in childhood. The high infant mortality rate in Jordan and many other developing countries is mostly due to an increased prevalence of malnutrition, diarrhoeal diseases, and chest infections, which are also recognized clinical features of CF. Reports of CF among Arabs in neighbouring countries have stimulated clinical studies to evaluate the prevalence and incidence of this disease among Jordanian children. In a prospective study, 7682 neonates from 10 different hospitals in Jordan were screened for CF using the BM test for meconium albumin. Four cases gave a positive reaction to BM test strips. Cystic fibrosis was confirmed in three by sweat chloride test using pilocarpine iontophoresis. This represents an incidence of 1:2560 live births. In spite of the recognized limitations for the use of the BM test on meconium for mass screening of CF, this study has contributed to the increased awareness of the occurrence of CF among Jordanian children.

Topics: Albumins; Cystic Fibrosis; False Positive Reactions; Humans; Infant, Newborn; Jordan; Meconium; Neonatal Screening; Prospective Studies; Time Factors

Meconium peritonitis is a chemical peritonitis usually resulting from antenatal bowel rupture. Prenatal ultrasound findings include ascites, intraabdominal masses, bowel dilatation and the development of intraabdominal calcifications [1-5]. The most common bowel disorders which lead to meconium peritonitis in utero are those resulting in bowel obstruction and perforation, such as small bowel atresias, volvulus and meconium ileus [1-5]. Meconium ileus is associated with cystic fibrosis in most cases, although extraluminal abdominal calcifications are usually scarce in cases of cystic fibrosis [1, 6]. Postnatal outcome for infants with meconium peritonitis depends on the etiology for bowel rupture and underlying disease.

Topics: Ascites; Cystic Fibrosis; Female; Fetal Diseases; Humans; Infant, Newborn; Intestinal Perforation; Male; Meconium; Peritonitis; Pregnancy; Ultrasonography, Prenatal

Cystic fibrosis patients born with meconium ileus (MI) have had an improved outcome over the last three decades. The authors reviewed the impact of surgical management and long-term nutritional care on the survival of patients with MI. Of the 59 cases of MI seen from 1959 to 1989, 48 cases were managed operatively using either the Bishop-Koop ileostomy (BK), the Mikulicz ileostomy, primary resection and anastomosis (RA), or ileostomy. Six-month survival of MI has improved from 37% to 100%. Nonoperative cases (n = 11) had 100% long-term survival. The RA survivors required less late operative intervention (20%) as compared with other surgical patients (81%). A comparison of serial growth percentiles of CF patients with MI with those of their non-MI CF peers showed similar long-term decreases. These data confirm: (1) There is an improved survival for MI independent of the surgical procedure; (2) The BK ileostomy is an effective and time-tested MI treatment; (3) Primary resection and anastomosis in selected cases may have a lower surgical morbidity rate; and (4) Meconium ileus does not adversely affect the long-term nutritional outcome of CF patients.

Topics: Chi-Square Distribution; Cystic Fibrosis; Female; Humans; Ileal Diseases; Infant; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Nutritional Status; Retrospective Studies; Survival Analysis; Treatment Outcome

This article reviews the management and mortality of 53 neonates with meconium ileus and cystic fibrosis treated in one paediatric surgical centre from 1972 to 1990. Forty-four patients (83 per cent) presented with simple meconium ileus and 26 of 40 patients in this group were successfully treated with Gastrografin enemas. Four patients suffered a perforation as a result of the enema (perforation rate 5 per cent). The 1-year survival rate for simple meconium ileus was 81 per cent and for complicated meconium ileus 75 per cent.

Topics: Cystic Fibrosis; Enema; Female; Humans; Infant, Newborn; Intestinal Obstruction; Intestine, Small; Male; Meconium

Topics: Abdominal Pain; Adolescent; Cystic Fibrosis; Female; Humans; Intestinal Obstruction; Meconium; Radiography; Syndrome

Kawasaki syndrome appeared after operation for meconium ileus equivalent in a 4-year-old child with cystic fibrosis. The course and management are described.

Topics: Child, Preschool; Cystic Fibrosis; Female; Humans; Intestinal Obstruction; Meconium; Mucocutaneous Lymph Node Syndrome; Postoperative Complications

The suspicion of prenatal meconium ileus syndrome was raised in a pregnancy in a family with no history of cystic fibrosis because of significantly higher maternal serum alpha-fetoprotein in the 16th and 19th week of gestation, dispersed areas with increased echogenity in the fetal abdomen, slight fetal ascites in the 24th-25th weeks of gestation, decreased amniotic fluid gamma-glutamyltranspeptidase (GGT) activity and alpha-fetoprotein level in the 25th-26th weeks, and normal 46,XY karotype of the fetus. The detection of a homozygous deltaF508 cystic fibrosis transmembrane regulator (CFTR) gene mutation, by means of PCR from a small amount of white blood cells and urine sediment cells, substantiated the diagnosis of cystic fibrosis in a prematurely delivered boy in the 28th week of gestation. The repeated sweat test was unsuccessful. The autopsy examination confirmed the diagnosis of cystic fibrosis. Fetal meconium ileus syndrome was complicated by peritonitis and by formation of a meconium pseudocyst. Direct PCR typing improves postnatal diagnostic possibilities in the early neonatal period in prematurely delivered babies when the sweat test is difficult to perform.

Topics: alpha-Fetoproteins; Chromosome Deletion; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Fetal Diseases; Genetic Linkage; Genetic Markers; Humans; Infant, Newborn; Infant, Premature; Intestinal Pseudo-Obstruction; Male; Meconium; Membrane Proteins; Mutation; Polymerase Chain Reaction; Polymorphism, Genetic

We report a case of dysgenetic congenital hypothyroidism associated with cystic fibrosis. Impaired exocrine pancreatic secretion and/or transit abnormalities secondary to the treatment of meconium ileus resulted in decreased absorption of L-thyroxine and difficulties in management of hypothyroidism.

Topics: Congenital Hypothyroidism; Cystic Fibrosis; Humans; Hypothyroidism; Ileal Diseases; Infant, Newborn; Intestinal Pseudo-Obstruction; Male; Meconium; Pancreas; Pancreatic Function Tests; Thyroid Function Tests; Thyroid Gland

Topics: alpha 1-Antitrypsin; Cystic Fibrosis; Electrophoresis, Cellulose Acetate; Humans; Immunoelectrophoresis, Two-Dimensional; Infant, Newborn; Meconium; Trypsin

Topics: Amiloride; Chlorides; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Intestinal Absorption; Intestinal Mucosa; Intestinal Obstruction; Meconium; Membrane Potentials; Nasal Mucosa; Rectum; Sweat

High blood trypsin levels during early days of life are found in newborns subsequently diagnosed to be affected by cystic fibrosis. The authors compared the validity of the traditional meconium test with the blood immunoreactive trypsin (IRT) assay, carried out in parallel on 113,302 neonates from three regions of North-eastern Italy. The meconium test showed a sensitivity of 57.7%. The sensitivity of the IRT test was higher (96.1%). It was possible to identify by IRT 10 out of 11 false negative CFs at the meconium test. A shortcoming of neonatal IRT, however, is its low specificity; 1.6% of the newborns had to be retested. A new screening policy was therefore proposed and carried out on 69,640 newborns: the Lactase test (LACT) on meconium was introduced as a complementary assay in IRT positive newborns. If LACT exceeded 2 U/g dry meconium, a confirmatory sweat test was immediately requested; if LACT test was negative and IRT exceeded 85 micrograms/l, IRT was repeated. Postneonatal retesting values above 25 micrograms/l required a sweat test. As a result, the estimated prevalence of CF was 1:4,352, the sensitivity was 93.3%; the specificity turned out to be 99.6%, considering all false positive newborns investigated with retesting and/or direct sweat test.

Topics: Albumins; alpha 1-Antitrypsin; beta-Galactosidase; Cystic Fibrosis; Humans; Immunodiffusion; Infant, Newborn; Lactase; Meconium; Neonatal Screening; Prospective Studies; Radioimmunoassay; Retrospective Studies; Trypsin

Topics: Cystic Fibrosis; Female; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Parenteral Nutrition; Peritonitis; Radiography

The study of 53 patients with neonatal meconium peritonitis (MP) over a twenty-two year-period, the largest surgically-treated series at a single centre, is presented. Three different types of MP were established: Generalized, Localized and Cystic. Prognosis and surgical techniques to be used were determined by each MP type. The following survival rates achieved: for Generalized MP, 70% with "one stage" and 89% with "two stage"; for Localized MP, 80% with "one stage" and 100% with "two stage" and for Cystic MP, 57% with "two stage". The overall survival rate was 77%, rising to 85% in the last fifteen years, probably due to the advent of parenteral nutrition and advances in neonatal intensive care.

Topics: Cystic Fibrosis; Female; Humans; Infant, Newborn; Intensive Care, Neonatal; Intestinal Atresia; Intestinal Perforation; Male; Meconium; Peritonitis; Prognosis; Spain

CF heterogeneity has been evidenced from both clinical and genetic observations. At least two clinical forms of CF are easily distinguishable: CF with meconium ileus and CF without meconium ileus. The results of prenatal diagnosis have shown that the recurrence rates of CF are different in these two clinical forms. Molecular analysis of Restriction Fragment Length Polymorphisms (RFLPs) tightly linked to the cystic fibrosis (CF) gene defined several types of CF and normal chromosomes in a French sample of 64 families with CF. The CF mutation is tightly linked to one XV-2C and KM19 RFLPs haplotype but is differently linked to J3.11 RFLP alleles, depending on whether or not the clinical form of CF is associated with ileus. A distortion of the segregation ratio observed between normal and CF haplotypes in the families with ileus could explain the high recurrence rate of CF in such families.

Topics: Alleles; Cystic Fibrosis; Gene Frequency; Genetic Variation; Haplotypes; Heterozygote; Homozygote; Humans; Intestinal Obstruction; Meconium; Mutation; Pedigree; Polymorphism, Restriction Fragment Length; Prospective Studies

Echogenicity of the fetal bowel seen sonographically can vary at different gestational ages. Increased echogenicity of small bowel loops is seen commonly in the second trimester. We encountered a case of increased bowel echogenicity with shadowing in the third trimester in a fetus who had meconium ileus associated with cystic fibrosis. Other reports also indicate that a persistent echogenic appearance of fetal small bowel in the third trimester, particularly with shadowing, is worrisome and can be associated with meconium ileus.

Topics: Adult; Cystic Fibrosis; Female; Fetal Diseases; Humans; Intestinal Obstruction; Meconium; Pregnancy; Pregnancy Trimester, Third; Ultrasonography

Topics: Adult; Cesarean Section; Cystic Fibrosis; Female; Fetal Distress; Humans; Infant, Newborn; Infant, Premature; Intestinal Obstruction; Intestine, Small; Meconium; Pregnancy; Prenatal Diagnosis; Ultrasonography

We set out to determine if the clinical course or genetic profiles of patients with cystic fibrosis who had meconium ileus differed from those of other patients with cystic fibrosis. Since 1950 we have followed 158 patients with meconium ileus among 1175 patients with cystic fibrosis (13.4%). Patients with meconium ileus had lower birth weight (3026 +/- 610 gm) than patients with no meconium ileus (3169 +/- 534 gm; p less than 0.008); the deficit was especially evident in female patients. Survival in the first year of life increased from 55% in those born between 1958 and 1972 to 96% in those born between 1973 and 1987. Since 1973 the median survival of male and female patients with meconium ileus was similar to that in female patients with no meconium ileus (21 years), whereas 78% of males with no meconium ileus survived to this age (p less than 0.0001). Patients with meconium ileus born before 1972 had lower weight and height percentiles at age 13 years compared with patients with no meconium ileus, but this difference was not as apparent in patients born after 1973. There were no differences between the two groups in forced vital capacity, forced expiratory volume in 1 second, or forced expiratory flow in the middle half of forced vital capacity. Patients with meconium ileus acquired Pseudomonas aeruginosa at a younger age than did patients with no meconium ileus (4.20 +/- 4.67 vs 7.18 +/- 5.19 years), but there was no difference in age of acquisition of P. cepacia. In families in which the first child had meconium ileus, 29% of subsequent siblings with cystic fibrosis had meconium ileus, compared with 6% of siblings born to families in which the first child did not have meconium ileus. Allelic frequencies and haplotypic variants for cystic fibrosis chromosomes with respect to DNA markers closely linked to the cystic fibrosis locus were similar in families with cystic fibrosis with meconium ileus and those with no meconium ileus. These findings suggest that patients with cystic fibrosis and those without meconium ileus do not have major intrinsic differences and that the previously poor outlook in patients with meconium ileus has improved greatly.

Topics: Adolescent; Alleles; Anthropometry; Birth Weight; Child; Cystic Fibrosis; Female; Gene Frequency; Genetic Markers; Haplotypes; Humans; Infant, Newborn; Intestinal Obstruction; Longitudinal Studies; Male; Meconium; Prognosis

This report describes 51 neonates with meconium ileus and emphasizes a changing pattern of treatment and improved survival. Twenty-four neonates had uncomplicated meconium ileus due to inspissated meconium obstructing the distal ileum. Twenty-seven neonates had 41 complications of meconium ileus including volvulus (18), bowel atresia (13), perforation (5), and giant cystic meconium peritonitis (5). Nine patients with uncomplicated cases responded to nonoperative clearing of meconium using a meglumine diatrizoate (Gastrografin) enema. Six of 7 patients with enema failures underwent laparotomy, purse-string enterotomy, and intraluminal irrigation. The remaining 9 patients with uncomplicated meconium ileus had resection and enterostomy. Complicated cases were managed by resection and anastomosis (13) or enterostomy (14). Survival at 1 year was 92% in patients with uncomplicated meconium ileus and 85% for those with complicated meconium ileus. Nonoperative Gastrografin enema or enterotomy-irrigation can relieve obstruction in uncomplicated meconium ileus and avoid an enterostomy in most cases.

Topics: Cystic Fibrosis; Female; Humans; Ileal Diseases; Infant, Newborn; Intestinal Obstruction; Male; Meconium

Although dehydrated obstructing mucus is thought to account for the obstructive pathology involving the lungs, the pancreas, the reproductive system, and the intestinal tract, its relationship with CF-associated liver disease remains largely hypothetical and little is known about possible risk factors. Complete clinical and autopsy records were available in 38 of 73 deaths occurring over a 10-year period. The liver was normal in only five cases, and they were all infants. Steatosis was the only lesion present in 9, hypoxic liver disease was documented in 8, and biliary cirrhosis in 16 (focal in 10 and multilobular in 6). There was no relationship between the presence of cirrhosis, gallbladder abnormalities, age at death, and clinical status recorded during the year precoding their demise. Mucus plugs characterized by amorphous eosinophilic material within proliferated bile ductules were present in 75% of children with focal or multilobular biliary cirrhosis as opposed to 14% in those without (p = 0.015). A history of meconium ileus or its equivalent was recorded more frequently (p = 0.038) in those with cirrhosis. Finally, biliary cirrhosis was invariably present when there was a history of meconium ileus or its equivalent and when mucus plugs were noted. These findings suggest that patients with intestinal obstruction are at greater risk for the development of cirrhosis and that strategies should be developed to increase the detergent capacity of bile and its flow in order to decrease the viscosity of mucus in the biliary tree.

Topics: Bile; Child; Cystic Fibrosis; Female; Humans; Infant, Newborn; Intestinal Obstruction; Liver Cirrhosis, Biliary; Male; Meconium; Retrospective Studies; Risk Factors

After an experimental neonatal screening program for cystic fibrosis had been carried out in the Netherlands during 1973 to 1979, a follow-up study to evaluate the effects of neonatal screening was started in 1980. Although before 1980 the management of patients with cystic fibrosis was partly left to local hospitals, from the start of the follow-up program all patients in the study received similar treatment. A cumulative survival rate, calculated with exclusion of the patients with meconium ileus, showed at the age of 11 years a significantly better survival rate (p less than 0.05) for the 19 patients from the screened population (88%) than for the 25 patients from the nonscreened population (60%). Clinical condition was assessed on entry and at the age of 9 years in 16 screened and 20 nonscreened patients. On entry, comparison showed significantly better chest radiograph scores for the screened patients but no other significant differences. At the age of 9 years, after several years of similar treatment for all patients in the study, significantly better clinical (p less than 0.02) and chest radiograph scores (p less than 0.01), lower IgG levels (p less than 0.05), and higher vitamin A levels (p less than 0.01) were observed in the screened patients. Our study results suggest that early diagnosis and appropriate treatment may prevent serious deterioration and death at a young age, and may reduce the extent of early irreversible lung damage in patients with cystic fibrosis.

Topics: Albumins; Child; Child, Preschool; Cystic Fibrosis; Follow-Up Studies; Humans; Infant; Infant, Newborn; Lung Volume Measurements; Meconium; Netherlands; Prognosis

Meconium specimens from 18 infants with cystic fibrosis (CF) had strong trypsin inhibitory activity (TIA). The same specimen, which contained increased quantities of undigested proteins, had normal concentrations of immunoreactive trypsin (IRT), but deficient trypsin catalytic activity (TCA). TIA was not detected in any specimen from non-CF infants who had high concentration of proteins comparable to that of CF infants. Subjecting meconium supernatant of CF infants to Sephadex G-75 gel filtration revealed that TCA was greatly enhanced in effluents after fractions were activated by porcine trypsin. TCA was present in the same fractions with IRT. The findings suggested that proteases were secreted into the intestinal lumen in CF infants prior to birth. Deficient proteolysis in the disease might be due to the presence of a trypsin inhibitor.

Topics: alpha 1-Antitrypsin; alpha-Macroglobulins; Catalysis; Chymotrypsin; Cystic Fibrosis; Humans; Infant, Newborn; Meconium; Trypsin; Trypsin Inhibitor, Kazal Pancreatic; Trypsin Inhibitors

41 families with cystic fibrosis, (CF) were tested for restriction fragment length polymorphisms (RFLPs) detected by four DNA probes all of which are tightly linked to the CF gene. 17 of the families had an affected child with, and 24 had one without, meconium ileus. In all cases, CF segregates with these gene probes; however, those with and those without meconium ileus differed in haplotype for CF chromosomes with respect to pJ3.11, which suggests that because of multiallelism (different mutations of the same locus) some CF patients present with meconium ileus and others do not.

Topics: Alleles; Cystic Fibrosis; Haplotypes; Humans; Infant, Newborn; Intestinal Obstruction; Meconium; Polymorphism, Restriction Fragment Length

Four of ten fetuses carrying a risk of 1:4 for cystic fibrosis were found to have low levels of microvillar enzymes in the amniotic fluid obtained between 17 and 18 weeks' gestational age. On sonography performed prior to the amniocentesis, three fetuses showed enlarged bowel loops. At autopsy, meconium ileus was detected. Enlarged bowel loops are a sign which has not been described previously so early in pregnancies.

Topics: Cystic Fibrosis; Female; Fetal Diseases; Humans; Intestinal Obstruction; Meconium; Pregnancy; Prenatal Diagnosis; Ultrasonography

Meconium ileus (MEC), failure to thrive (FTT), and a combination of FTT and pulmonary symptoms (COMB) are the most frequent symptoms of cystic fibrosis (CF) at the time of diagnosis. The purpose of this study was to compare to normal controls (NC) the pulmonary function of CF infants at the time of diagnosis, when grouped by these symptoms. The measurements of pulmonary function included oxygen saturation (SaO2), functional residual capacity (FRC), mixing index (MI), total respiratory system compliance (Crs), and maximal flow at FRC (VmaxFRC). Compared to NC (n = 33), the MEC group (n = 5) had a higher MI (54 vs. 42%) and no difference in SaO2, Crs or VmaxFRC. There were no significant differences between FTT (n = 8) and NC groups although there was a tendency for Crs to be lower in the FTT group (5.1 vs. 6.8 ml/cm H2O). When compared to all other groups, the COMB group (n = 11) had significantly lower SaO2, MI, Crs, and VmaxFRC. The normal lung function in the MEC group is consistent with the normal anatomy reported in CF infants dying secondary to meconium ileus. Longitudinal evaluation of the infants in this study, following initiation of care as patients with a diagnosis of CF, may allow us to determine whether symptoms at diagnosis remain an important determinant of lung function in infancy.

Topics: Cystic Fibrosis; Failure to Thrive; Functional Residual Capacity; Humans; Infant; Intestinal Obstruction; Lung; Lung Compliance; Lung Volume Measurements; Meconium

Topics: Adult; Cystic Fibrosis; Diseases in Twins; Enterostomy; Female; Humans; Infant, Newborn; Infant, Premature, Diseases; Intestinal Obstruction; Meconium; Pregnancy; Radiography

We have observed seven pregnancies at risk for fetal cystic fibrosis where second-trimester amniotic fluid microvillar enzyme activities presented an unusual pattern. Low gamma-glutamyltranspeptidase and borderline alpha-glucosidase values were associated with normal aminopeptidase M and intestinal alkaline phosphatase values. All seven pregnancies went to term; five of the seven infants were affected with cystic fibrosis.

Topics: Alkaline Phosphatase; alpha-Glucosidases; Aminopeptidases; Amniotic Fluid; CD13 Antigens; Cystic Fibrosis; Female; gamma-Glutamyltransferase; Gestational Age; Humans; Meconium; Pregnancy; Prenatal Diagnosis

Topics: Cystic Fibrosis; Diagnosis, Differential; Dilatation, Pathologic; Female; Fetal Diseases; Humans; Infant, Newborn; Intestinal Obstruction; Intestines; Male; Meconium; Pregnancy; Prenatal Diagnosis; Ultrasonography

Topics: Adolescent; Adult; Ascites; Bile Duct Diseases; Cecal Diseases; Child; Child, Preschool; Colonic Diseases; Cystic Fibrosis; Duodenal Diseases; Gallbladder Diseases; Gastrointestinal Diseases; Humans; Infant, Newborn; Intestinal Obstruction; Intestine, Small; Intussusception; Jaundice, Neonatal; Liver Diseases; Male; Meconium; Peritonitis; Prenatal Diagnosis; Tomography, X-Ray Computed; Ultrasonography

Topics: Adult; Colon; Cystic Fibrosis; Female; Humans; Ileum; Infant, Newborn; Intestinal Obstruction; Meconium; Pregnancy; Prenatal Diagnosis; Ultrasonography

Topics: Chlorides; Cystic Fibrosis; Exocrine Pancreatic Insufficiency; Humans; Infant, Newborn; Intestinal Obstruction; Liver Cirrhosis, Biliary; Lung Diseases; Meconium; Sex Factors; Sweat

Topics: Amniotic Fluid; Cystic Fibrosis; Female; Fetal Diseases; Humans; Intestines; Meconium; Pregnancy; Prenatal Diagnosis

Excretion of haptocorrin (R binder), cobalamin, and other corrinoids was studied in meconium from cystic fibrosis (n = 4), premature (n = 3), and control neonates (n = 13). Corrinoids content was 1.67 +/- 0.92 pmol/mg protein in meconium of cystic fibrosis (CF) neonates but only 0.33 +/- 0.37 and 0.48 +/- 0.47 pmol/mg protein, respectively, in that of prematures and controls. Considering its molecular mass (110,100 +/- 10,100) and its mean isoelectric point (3.67 +/- 0.20), haptocorrin remained undergraded in the meconium of CF neonates whereas it was partially degraded in the meconium of prematures and in most of the meconium from controls. Sequestration of cobalamin by undergraded haptocorrin can explain its increased excretion in CF meconium. Cobalamin-binding capacity of haptocorrin was 22.13 +/- 15.50 pmol/mg protein in CF meconium and about 400-fold lower in meconium of prematures and controls. This may correspond to a fetal intestinal hypersecretion in cases of CF.

Topics: Cystic Fibrosis; Glucosidases; Humans; Infant, Newborn; Infant, Premature; Meconium; Transcobalamins; Vitamin B 12

A neonatal screening program for CF by determination of albumin in meconium was performed in the north eastern part of the Netherlands from 1973 to 1979. In this period 94,043 newborns were screened and 116,953 were not. A follow-up study of CF patients in the above cohorts was started in 1980. The purposes of this study were to evaluate the effects of early diagnosis and treatment in CF patients by comparing the outcome in the two groups of patients. Although the results indicate that very early diagnosis and treatment have a beneficial effect on outcome, more studies are needed before a definite answer can be given as to whether or not mass neonatal screening should be started.

Topics: Albumins; Child; Child, Preschool; Cystic Fibrosis; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Mass Screening; Meconium; Netherlands; Pilot Projects; Prognosis

From 1969 to 1984, 42 neonates were managed for meconium ileus caused by cystic fibrosis. Simple, uncomplicated meconium ileus occurred in 24 infants (57%) and complicated meconium ileus occurred in 18 (43%). Meglumine diatrizoate (Gastrografin) enema completely relieved the obstruction in 13 patients with simple meconium ileus (54%) and caused colonic and rectal perforations in three (13%). Six operative procedures were used in 29 patients: double enterostomy (seven), resection with primary anastomosis (seven), Bishop-Koop enterostomy (seven), intraluminal lavage (four), colostomy (three), and Mikulicz enterostomy (one). Postoperative complications included malabsorptive diarrhea (nine), pneumonia (three), intestinal obstruction (two), total parenteral nutrition-catheter sepsis (two), and anastomotic leak (one). Infants managed nonoperatively by Gastrografin enema had a significantly shorter hospitalization (average, 15 days) than those undergoing operation for simple meconium ileus (54 days) and complicated meconium ileus (111 days). Postoperative survival rate was 100% with a late survival rate of 86%.

Topics: Cystic Fibrosis; Diatrizoate Meglumine; Enterostomy; Female; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium

A child with cystic fibrosis developed the meconium ileus equivalent in the postappendectomy period. This problem has not been emphasized in patients with cystic fibrosis. Operative evacuation only partially relieved the obstruction. Transient upper gastrointestinal bleeding fortuitously produced beneficial effect, which completely resolved the persisting ileus.

Topics: Appendectomy; Appendicitis; Child, Preschool; Cystic Fibrosis; Feces; Humans; Intestinal Obstruction; Male; Meconium; Peritonitis; Postoperative Complications

Prenatal diagnosis of cystic fibrosis was performed in 200 pregnancies with a 1-in-4 risk, and was based on significant modifications in amniotic fluid taken at 17, 18, 19 weeks of pregnancy, of six enzymatic assays: gamma-glutamyl-transpeptidase, aminopeptidase M, and alkaline phosphatase (total and isoenzymes). On the basis of normal values, normal outcome was predicted in 135 pregnancies reaching term, all the babies were normal. On the basis of significantly abnormal enzymatic values, an affected fetus was predicted in 56 pregnancies, 53 were terminated, and 3 went to term; the infants were affected. There were discrepancies in enzymatic values in nine cases, in eight cases normal outcome was predicted, six babies were normal and two were affected; in one case an affected baby was predicted, the pregnancy went to term and the baby is normal. Criteria giving evidence for cystic fibrosis in fetuses have been described: macroscopic observation of a typical meconium ileus, significant increase of albumin content in the meconium, and PAS-positive mucus-like material in some pancreatic acini. Using these criteria, diagnosis of cystic fibrosis has been confirmed in all the examined fetuses. The recurrence rate of cystic fibrosis was 22.5% in 147 diagnoses in which the index case had cystic fibrosis without a history of meconium ileus at birth, but was 47.5% when the index case had meconium ileus. The results of the study suggest that prenatal diagnosis of cystic fibrosis can be performed with an accuracy of 98%.

Topics: Amniocentesis; Amniotic Fluid; Clinical Enzyme Tests; Cystic Fibrosis; False Negative Reactions; False Positive Reactions; Female; Fetus; Humans; Infant, Newborn; Meconium; Pancreas; Pregnancy; Prenatal Diagnosis; Ultrasonography

In contrast to bloatedness and steatorrhoea the meconium ileus equivalent is a less well known gastrointestinal complication in cystic fibrosis and thus less frequently correctly diagnosed. The term, first used by Jensen in 1962, notifies partial or complete obstruction due to increasing viscosity of gut contents. The occurrence of the meconium ileus equivalent increases with age (approx. 10%), recurrences are possible. Among 73 patients with cystic fibrosis 8 patients with ileus equivalents were observed, two of them had a recurrence Surgery was performed only in one case. In all other patients the intestinal obstruction was relieved by oral and enema administration of N-acetylcysteine.

Topics: Acetylcysteine; Adolescent; Child; Child, Preschool; Cystic Fibrosis; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Ileal Diseases; Intestinal Obstruction; Male; Meconium; Recurrence

During the 15 years from 1970 to 1984, 38 infants, all with cystic fibrosis, were treated for meconium ileus at The Montreal Children's Hospital and Ste-Justine Hospital for Children. Thirteen patients (34%) had complicated meconium ileus that included 7 perforations (2 colon, 5 ileum), 4 volvulus, and 2 atresia with meconium pseudocyst. In this group, various operations were done: resection with primary anastomosis for atresia, or resection with enterostomy for peritonitis or volvulus. One died shortly after surgery. Of 25 patients with uncomplicated meconium ileus (66%), one died shortly after arrival from respiratory distress, leaving 24 patients available for study. Gastrografin enema was attempted on 20 patients with eight successes (40%). Of the remaining 16 patients with unresolved meconium ileus, nine were treated with laparotomy and ileostomy, and one with laparotomy and T-tube irrigation. Six patients were treated by laparotomy and enterotomy for irrigation with N-acetylcysteine and evacuation by Fogarty catheter, a technique not widely used. No one succumbed in this group. This latter method of management is recommended for patients with simple uncomplicated meconium ileus.

Topics: Cystic Fibrosis; Humans; Ileal Diseases; Ileostomy; Infant, Newborn; Intestinal Obstruction; Laparotomy; Meconium; Therapeutic Irrigation

Topics: Adult; Cystic Fibrosis; Diagnosis, Differential; Humans; Ileal Diseases; Intestinal Obstruction; Male; Meconium

A small left colon has been observed in neonates due to several causes: aganglionosis, meconium plug, and neonatal small left colon syndrome. We report a case of small left colon in an infant with cystic fibrosis, underscoring the need to consider this disease in the diagnostic work up.

Topics: Adult; Barium Sulfate; Colon; Cystic Fibrosis; Enema; Female; Glycosuria; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Pregnancy; Pregnancy Complications; Radiography

The etiology of bowel perforations leading to meconium peritonitis was investigated in an attempt to explain the occurrence of such perforations in the absence of primary intestinal obstruction. Bowel specimens from 22 patients who had presented with meconium peritonitis during a 15-year period, as well as specimens from five patients with intestinal atresia without associated meconium peritonitis, were re-evaluated microscopically. An extensive review of the literature concerning meconium peritonitis, involving 1,084 patients, was compared with the results of a retrospective study of 69 patients from The Netherlands. In approximately 50 per cent of these cases there was no detectable primary cause of the bowel perforation. The pathologic findings, in combination with earlier experimental studies, indicate that vascular insufficiency may result in bowel wall perforation without prior intestinal obstruction. It is suggested that temporary decrease of mesenteric blood flow could lead to intestinal atresia and/or meconium peritonitis.

Topics: Birth Weight; Cystic Fibrosis; Gestational Age; Humans; Infant, Newborn; Intestinal Atresia; Intestinal Perforation; Intestines; Meconium; Peritonitis; Splanchnic Circulation

The effects of neonatal diagnostic screening on cystic-fibrosis (CF) -related morbidity were evaluated by comparing hospital admissions for CF-related illness in the first 2 years of life in 40 patients detected by means of neonatal screening and 56 patients born in the 3 years before screening began. Unscreened patients without meconium ileus had a mean of 27.25 hospital days for CF-related illness, and screened patients a mean of 3.9 days. There was no trend with time towards fewer days spent in hospital: the change was sudden. The difference was significant and could not be attributed to non-comparability of groups, changes in admission policy, or changes in management. In patients with meconium ileus there was no significant difference in hospital admissions between the groups. Neonatal screening significantly reduces CF morbidity in the first 2 years of life.

Topics: Child, Preschool; Cystic Fibrosis; Female; Hospitalization; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Length of Stay; Male; Mass Screening; Meconium

A survey is given of the morphological and biochemical lesions of the small intestine that can be found in cystic fibrosis patients. The available data on the structure and function of the small intestine in CF patients favour the hypothesis that the small intestine itself might contribute to the malabsorption of nutrients in this disease. The most pronounced lesions, i.e. meconium ileus and absent active transport of bile salts are found in the ileum. It might be remembered that the ileum is also the site of intensive exchange of chloride and bicarbonate, a function that is heavily disturbed in the pancreas of CF patients. For this reason, further studies on the ileal function in cystic fibrosis are warranted.

Topics: Bicarbonates; Biopsy; Child; Chlorides; Cystic Fibrosis; Disaccharidases; Enteropeptidase; Fatty Acids; Humans; Hydrolases; Intestine, Small; Meconium; Proteins

In recent years patients with cystic fibrosis (CF) have experienced longterm survival and have demonstrated a number of intra-abdominal complications. This report evaluates the intra-abdominal complications seen in 69 of 189 children with cystic fibrosis from 1972 to 1983. Forty-one patients were boys and twenty-eight girls. Complications occurred in 36 neonates, with meconium ileus (MI) noted in 33 and giant cystic meconium peritonitis (GCMP) in 3. Meconium ileus equivalent occurred in seven older children presenting with bowel obstruction. In addition, rectal prolapse occurred in 12, inguinal hernia in 10, intussusception in 3, cholelithiasis in 3, GE reflux in 4, stress ulcer in 1 and appendicitis in 1. Three infants with GCMP survived resection and enterostomy. Infants with MI were divided into simple (15) or complicated (18) cases. Nonoperative therapy using gastrografin enema was successful in three of eight with simple MI. Operative enterotomy and irrigation was successful in three cases while resection and enterostomy was done in nine. MI was complicated by atresia, volvulus and/or perforation in 18 cases requiring resection and anastomosis or enterostomy. Survival for MI was 86% compared to 36% in 25 MI patients treated in the previous two decades. Meconium ileus equivalent was successfully managed using gastrografin enema in five of seven children. Only 3 of 12 children with rectal prolapse required repair. Two cases of intussusception were reduced while one required resection. Three of 10 children had hernia recurrence due to chronic pulmonary problems.(ABSTRACT TRUNCATED AT 250 WORDS)

Topics: Abdomen; Adolescent; Child; Child, Preschool; Cystic Fibrosis; Female; Hernia, Inguinal; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Intussusception; Male; Meconium; Peritonitis; Rectal Prolapse

The incidence of cystic fibrosis in Ontario, Canada has been determined from clinical data, from the cystic fibrosis database of the Hospital for Sick Children, Toronto, and from population statistics in the Province of Ontario. The survey included 420 confirmed cases of cystic fibrosis born during the period 1966-1980. The mean incidence during this period was one in 2,927. In the last 5-year period, a decline was noted in incidence that may have reflected in part the effectiveness of early diagnosis and genetic counseling in affected families. During the period of the survey, over 60% of cases were diagnosed within the first year of life, 74% by age 2 years, and 90% by age 5 years. Clinical diagnosis in the first year of life was more common in males (65%) than in females (54%), a consistent finding during the period of the survey. The incidence of meconium ileus was 15.7% of ascertained cases of cystic fibrosis, with similar incidences in males (16.4%) and females (14.4%). Although survival has not been the subject of this survey, mortality in the neonatal period was significantly higher in males than in females with cystic fibrosis.

Topics: Age Factors; Child; Child, Preschool; Cystic Fibrosis; Epidemiologic Methods; Female; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Ontario; Sex Factors

Topics: Cystic Fibrosis; Female; Fetal Diseases; Humans; Hyperplasia; Ileum; Infant, Newborn; Intestinal Mucosa; Meconium; Pancreas; Pregnancy; Pregnancy Trimester, Second; Prenatal Diagnosis

Topics: Clinical Enzyme Tests; Cystic Fibrosis; Female; Humans; Intestinal Obstruction; Meconium; Pregnancy; Prenatal Diagnosis

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Meconium; Methods

Cystic fibrosis (CF) was diagnosed in 12 children from a total of 15,314 children admitted to the Paediatric Department at Jordan University Hospital (JUH) over the period 1976-1980. A diagnosis of meconium ileus was made in five children. The remaining seven affected children were diagnosed clinically on the basis of recurrent chest problems, failure to thrive, positive family history and a high level of sweat chloride, range 72-115 mEq/l (mean 97.6 mEq/l). Five children died (41.7%); three of the group with meconium ileus died during the post-operative period and two of the other group died soon after the diagnosis was made. The cause of such a high mortality rate is multifactorial. As CF was only recently recognized in Jordan, it is believed that the prevalence of CF among Jordanian children is underestimated. CF is still a very serious illness that demands early diagnosis and an intensive programme of continuing care. Therefore, further prospective study to evaluate its prevalence and impact on child health in Jordan is urgently needed.

Topics: Child, Preschool; Chlorides; Cystic Fibrosis; Female; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Jordan; Male; Meconium; Pilot Projects; Sweat

Topics: Belgium; Cystic Fibrosis; Humans; Infant, Newborn; Meconium

Topics: Adult; Cystic Fibrosis; Diseases in Twins; Female; Humans; Intestinal Obstruction; Intestine, Small; Male; Meconium; Pregnancy; Pregnancy Trimester, Third; Prenatal Diagnosis; Twins, Monozygotic; Ultrasonography

Topics: Adult; Arginine; Child; Coumarins; Cystic Fibrosis; Humans; Infant, Newborn; Meconium; Saliva; Trypsin

Children with cystic fibrosis may develop intestinal obstruction later in life due to inspissation of small bowel content. Two children with cystic fibrosis who developed intestinal obstruction at the age of 5 and 14 years respectively are reported. The condition may be precipitated by reduction or stopping pancreatic supplement, dehydration or intercurrent chest infection. The intensive therapy of chest complications has improved the survival of children with cystic fibrosis, so that it is likely that in future more cases of meconium ileus equivalent will present in later childhood and in adulthood.

Topics: Adolescent; Age Factors; Cystic Fibrosis; Humans; Intestinal Obstruction; Intestine, Small; Male; Meconium; Radiography

Life tables were calculated for 273 British children with cystic fibrosis for the period 1974-9. There was a marked improvement in survival rates in the meconium ileus group compared with the 1969-73 data, but there was little improvement in patients presenting later with other symptoms.

Topics: Adolescent; Age Factors; Child; Child, Preschool; Cystic Fibrosis; Female; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Intestine, Large; Male; Meconium

Topics: Australia; Cystic Fibrosis; Humans; Infant, Newborn; Intestinal Obstruction; Meconium; United States

Meconium ileus is the initial clinical manifestation of cystic fibrosis. Once the intestinal obstruction is corrected either medically or surgically the course of disease is that of cystic fibrosis. It is suggested that babies with this disease should be treated in specialized pediatric cystic fibrosis centers to prevent early death or some avoidable complications. Genetic counseling for affected families is recommended when a baby is born with this condition. Usually such infants are born at full term and there is no sex predilection. Prognosis is uncertain and the outlook depends, as it does in cystic fibrosis, on the degree and rate of progression of the pulmonary involvement. This paper presents a series of unusual patients with meconium ileus who have reached adulthood, thus, offering hope that a satisfactory life beyond adolescence is possible in this formerly fatal disease of infancy.

Topics: Adult; Cystic Fibrosis; Female; Follow-Up Studies; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Prognosis

A high molecular mass mucus glycoprotein fraction (molecular mass greater than 1 million) which is a major component of meconium mucin, has been isolated from individual specimens collected from 20 healthy full-term infants, 19 premature infants and 19 infants with proven cystic fibrosis. The mucus glycoprotein fraction isolated from cystic fibrosis meconium had a significantly lower saccharide content than that isolated from specimens from healthy full-term infants but had a similar composition to that isolated from meconium of premature infants, gestational age 28-32 weeks. The composition of the glycoprotein fraction from the meconium of infants, gestational age 32-36 weeks, lay between that from cystic fibrosis and full-term. There is therefore a change or 'maturation' of epithelial mucin during gestation and it is hypothesised that the cystic fibrosis genetic lesion affects the maturation of epithelial secretion, resulting in the abnormal exocrine secretion associated with the disease.

Topics: Carbohydrates; Cystic Fibrosis; Gestational Age; Glycoproteins; Humans; Infant, Newborn; Infant, Premature; Meconium; Mucus; Neuraminic Acids

Topics: Cystic Fibrosis; Diagnosis, Differential; Hirschsprung Disease; Humans; Ileal Diseases; Infant, Newborn; Infant, Premature, Diseases; Intestinal Obstruction; Male; Meconium

Topics: Albumins; Cystic Fibrosis; Humans; Infant, Newborn; Meconium; Senegal

Topics: Child, Preschool; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Meconium; Northern Ireland

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Intestinal Obstruction; Meconium

Topics: Albumins; beta-Galactosidase; Cystic Fibrosis; Galactosidases; Germany, East; Humans; Immunoglobulins; Infant, Newborn; Mass Screening; Meconium

The results of more than eight years of screening for cystic fibrosis (CF), utilizing the albumin concentration in meconium, are reported. Over 28 000 meconium samples were tested, over 24 000 of them by the Boehringer-Mannheim strip test, and all samples considered as showing a trace or positive result were followed up by an immunological technique. Eight-three meconium samples contained more than 20 g albumin/kg dry weight meconium and five of these were from children who were found to have CF. One child with CF was missed in the screening. From these figures the sensitivity of the method for detecting CF children at birth was calculated to be 75%, the specificity 99.7%, the negative predictive value 100%, the positive predictive value 4.0% and the incidence of CF in Sweden about 1:4,500. The incidence of pathologically elevated meconium albumin concentrations was found to be 25 times higher in premature than in full-term infants. Since the number of false positive results creates a problem, we suggest that premature children (birth weight less than 2500 g) and newborns with melaena should be excluded from further follow-up studies.

Topics: Albumins; Cystic Fibrosis; Follow-Up Studies; Humans; Immunodiffusion; Infant, Newborn; Infant, Premature; Mass Screening; Meconium

Twelve cases of meconium peritonitis were retrospectively reviewed in this study. Five of these patients had cystic fibrosis. Of the patients with cystic fibrosis, intraperitoneal calcifications were present in three (60%) and two (40%) had none. All seven patients (100%) who had meconium peritonitis without cystic fibrosis had abdominal calcifications. These results indicate that the presence of intraperitoneal calcifications does not exclude the diagnosis of cystic fibrosis and that the absence of calcification favors cystic fibrosis. However, a review of the literature indicates the absence of calcification is merely of clue and not definitive as to the etiology of the meconium peritonitis.

Topics: Calcinosis; Cystic Fibrosis; Female; Humans; Infant, Newborn; Male; Meconium; Peritoneal Diseases; Peritonitis

Topics: Albumins; Cystic Fibrosis; Female; Genetic Carrier Screening; Humans; Infant; Infant, Newborn; Meconium; Pregnancy; Prenatal Diagnosis

Topics: Cystic Fibrosis; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Male; Meconium

The clinical histories, chest X-ray appearances, skin prick test results, pulmonary function and IgE levels of 20 patients with cystic fibrosis (C.F.) complicated by nasal polyps have been compared with those of 97 C.F. controls. The patients who had developed polyps had a different clustering of symptoms to the controls with heavier birthweights, later presentations, milder gastrointestinal symptoms in infancy, less infection with Staphylococcus aureus and better vital capacities. There was no evidence on history, skin testing or IgE levels that the polyps patients were more allergic. It is likely, therefore, that nasal polyps in C.F. are due to a primary effect of the C.F. gene, although they could also be the effect of chronic nasal infection.

Topics: Birth Weight; Child, Preschool; Cystic Fibrosis; Humans; Hypersensitivity; Infant, Newborn; Intestinal Obstruction; Meconium; Nasal Polyps; Staphylococcal Infections; Vital Capacity

Meconium diseases in infancy cannot be neatly separated into discrete categories of meconium plug syndrome, meconium ileus, and meconium peritonitis; nor can the therapy of each condition. A patient with any of the three may or may not have cystic fibrosis. All babies with any form of meconium obstruction or atresia must have a sweat chloride test to confirm or rule out this diagnosis. Repeated gastrografin enemas can decrease the need for operative intervention in all babies with meconium plug syndrome and in selected babies with meconium ileus. Babies with meconium diseases can now be managed with a low perinatal mortality.

Topics: Barium Sulfate; Cystic Fibrosis; Female; Hirschsprung Disease; Humans; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature, Diseases; Intestinal Obstruction; Male; Meconium; Peritonitis; Retrospective Studies

Topics: Abscess; Animals; Calcinosis; Cystic Fibrosis; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Meconium; Peritoneal Diseases; Peritonitis; Radiography; Rats

Topics: Cystic Fibrosis; Enema; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Male; Meconium; Postoperative Complications; Pregnancy

Topics: Cystic Fibrosis; Feces; Female; Humans; Infant, Newborn; Meconium; Pregnancy; Trypsin

Topics: alpha-Galactosidase; alpha-Glucosidases; alpha-L-Fucosidase; beta-Glucosidase; Cystic Fibrosis; Glucuronidase; Humans; Infant, Newborn; Mannosidases; Meconium

Topics: Cystic Fibrosis; Esophageal Atresia; Humans; Infant, Newborn; Intestinal Obstruction; Intestines; Meconium; Megacolon; Prognosis

A recurrence rate for meconium ileus of 39% was found among C.F. affected siblings in a study of 488 families with at least one C.F. child born over a 24 year period. The recurrence rate was highly significant and indicated a familial trend for the occurrence of meconium ileus. The findings of the study support the existence of genetic heterogeneity in cystic fibrosis.

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

The distribution of four antigens of alimentary tract origin was studied in meconium collected from healthy and cystic fibrosis (CF) neonates. Two antigens, carcinoembryonic antigen and a beta glycoprotein designated Mec 6, had significantly lower concentrations in the meconium from CF neonates compared with that from healthy full-term infants. As their concentrations were unrelated to whether or not the infants had had pancreatic insufficiency at birth, their measurement may be of value for screening. Their concentrations also depended on the gestational age of the newborn, and it is speculated that the CF lesion may affect the maturation of intestinal secretions.

Topics: Alkaline Phosphatase; Antigens; Carcinoembryonic Antigen; Cystic Fibrosis; Gestational Age; Glycoproteins; Humans; Immunoelectrophoresis, Two-Dimensional; Infant, Newborn; Meconium; Trypsin

Meconium Ileus Equivalent is a condition which occurs in patients with cystic fibrosis where the ileum becomes obstructed by bowel content of abnormal consistency. Intercurrent chest infection or absence of pancreatic extract supplements are often the exacerbating cause. Plain films of the abdomen show small bowel obstruction and in some a nodular pattern in the small bowel, the nodules being larger than those seen in quiescent cystic fibrosis. Gastrografin enemas and/or enemas with acetyl cysteine can be used in the treatment of the condition, the Gastrografin having the advantage of confirming the diagnosis radiologically. The condition is important as it can be the presenting feature of cystic fibrosis in childhood and even in early adult life, and the operative mortality and morbidity are high. Conservative treatment should be pursued vigorously and operation only undertaken if unavoidable.

Topics: Child; Child, Preschool; Cystic Fibrosis; Humans; Ileum; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Radiography

Topics: Child, Preschool; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Meconium; Prognosis

Immunoreactive trypsin (IRT) content in blood spots from 17 cystic fibrosis (CF) children born between 1975-80 were assayed with reagents from two commercial radioimmunoassay kits. The manufacturers' procedures were modified to allow assay of blood spot IRT. Half of the CF samples had a significantly raised IRT content compared to normal blood spots. Of the blood spots from five children whose meconium screening gave negative results, three or five (depending on the kit used) had a raised IRT content. On the other hand, less than 50% of children initially detected by meconium screening had raised blood spot IRT values. In our hands, analysis of blood spots for IRT does not consistently identify the newborn with CF and offers no advantage over other screening methods.

Topics: Adult; Age Factors; Child, Preschool; Clinical Enzyme Tests; Cystic Fibrosis; Humans; Infant; Meconium; Radioimmunoassay; Reagent Kits, Diagnostic; Trypsin

The Boehringer Mannheim test (BM test) for cystic fibrosis has been applied to 15 734 neonates. A positive result occurred in 130, seven of whom were subsequently shown to have the disease. To our knowledge no cases have been missed. Tests have been performed centrally by experienced laboratory staff and the false-positive rate of 0.83% is considered acceptable. It is important to follow up weak as well as strongly positive reactions to the BM test strip.

Topics: Cystic Fibrosis; England; False Positive Reactions; Humans; Indicators and Reagents; Infant, Newborn; Mass Screening; Meconium; Reagent Strips

An autopsy case of bilateral renal dysplasia with other congenital malformations is reported. Malformations included severe pancreatic fibrosis with meconium ileus, situs inversus totalis, cardiovascular anomalies, and others. The only syndrome of multiple congenital malformations involving renal dysplasia which is similar to the present case is Ivemark's syndrome, though the present case lacked hepatic lesions. Apart from the pancreatic lesion, there were no abnormalities compatible with cystic fibrosis (mucoviscidosis). It was considered that meconium ileus in the present case was caused by pancreatic achylia secondary to severe pancreatic fibrosis, unrelated to cystic fibrosis, but closely allied to renal dysplasia.

Topics: Abnormalities, Multiple; Cystic Fibrosis; Diagnosis, Differential; Female; Humans; Infant, Newborn; Intestinal Obstruction; Kidney; Meconium; Pancreatic Diseases; Situs Inversus

Topics: Cystic Fibrosis; France; Humans; Infant, Newborn; Mass Screening; Meconium; Reagent Kits, Diagnostic; Serum Albumin

Topics: Albumins; Chlorides; Cystic Fibrosis; Humans; Infant, Newborn; Italy; Mass Screening; Meconium; Sodium; Sweat

Topics: beta-Galactosidase; Clinical Enzyme Tests; Cystic Fibrosis; Diagnostic Errors; Humans; Infant, Newborn; Mass Screening; Meconium

Screening of newborn infants could provide information needed to evaluate the effects of early treatment on the course and prognosis of cystic fibrosis (CF). Two procedures of screening meconium for CF were compared: increased albumin levels, detected by a commercial test strip; and increased lactase activity, detected by glucose production after incubation of meconium with lactose. Specimens positive by the lactase test were retested for albumin. Low-birth-weight infants accounted for more than half the positive test results with both procedures. Sweat chloride measurements were carried out only on infants whose meconium specimens had albumin concentration greater than 12 mg/g (wet weight), measured by radial immunodiffusion. Twelve infants with CF were identified through screening, six while testing 44,816 specimens by lactase activity test. Three additional infants with CF were missed because meconium specimens were negative to both tests.

Topics: Albumins; beta-Galactosidase; Clinical Enzyme Tests; Cystic Fibrosis; Female; Galactosidases; Humans; Immunodiffusion; Infant, Low Birth Weight; Infant, Newborn; Male; Mass Screening; Meconium; Reagent Strips

A child with cystic fibrosis was given cimetidine in addition to pancreatic extract. Although the stool frequency was reduced the cimetidine had to be withdrawn because meconium ileus equivalent developed.

Topics: Child; Cimetidine; Cystic Fibrosis; Guanidines; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Male; Meconium

Review of the newborn nursery notes of 87 infants who had cystic fibrosis without meconium ileus (MI) indicated that 12 of them had clinical features consistent with the meconium plug syndrome (MPS). This high incidence of meconium abnormalities suggests that MI and the MPS probably represent different gradations of the same underlying pathologic abnormality. The findings further suggest that a quantitative pilocarpine iontophoresis sweat test be performed in every newborn infant with any type of meconium abnormality, including the spontaneous passage of meconium plugs.

Topics: Child, Preschool; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Intestinal Diseases; Intestinal Obstruction; Meconium; Pilocarpine; Sweat; Syndrome

Topics: Albumins; Cystic Fibrosis; Female; Genetic Carrier Screening; Heterozygote; Humans; Infant, Newborn; Meconium; Prenatal Diagnosis

Topics: Adolescent; Adult; Child; Child, Preschool; Cystic Fibrosis; Diabetes Mellitus; Female; Gastrointestinal Diseases; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Liver Cirrhosis; Malabsorption Syndromes; Meconium; Puberty; Rectal Prolapse

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Meconium; Megacolon; Syndrome

Topics: Cystic Fibrosis; Diatrizoate; Diatrizoate Meglumine; Enema; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestine, Small; Meconium

Topics: Cystic Fibrosis; Humans; Ileal Diseases; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Albumins; Cystic Fibrosis; Humans; Immunodiffusion; In Vitro Techniques; Infant, Newborn; Mass Screening; Meconium; Methods

Topics: Albumins; beta-Galactosidase; Cystic Fibrosis; Galactosidases; Humans; Infant, Newborn; Meconium

During a 4-year routine screening programme for cystic fibrosis (CF) 15 464 specimens were examined for raised meconium albumin levels by a test strip method and by electroimmunoassay. The incidence of false-positive results was about 5 per 1000 specimens in either test. This could be reduced by 90% by determining the ratio of albumin : alpha-1-trypsin inhibitor (a ratio below 2.0 being considered as a negative result), and it could be reduced to zero by determining the ratio in subsequent faecal specimens. Three of 12 meconium specimens from infants with proved CF gave false-negative results in all 3 tests. The other 9 specimens had greater than 100 mg albumin/g dry weight and albumin: alpha-1-trypsin inhibitor ratios of greater than 3.0; in subsequent faecal specimens the ratios were over 4.0. 176 meconium specimens from elsewhere in the UK were examined and these included 23 from infants who were subsequently proved to have CF. Six of these 23 CF specimens gave false-negative results, the other 17 being strongly positive. The origins of meconium serum protein suggest that infants with CF in whom meconium gives false-negative results have normal pancreatic functions at birth. The specificity of current meconium tests therefore cannot be improved as they depend on pancreatic dysfunction.

Topics: Albumins; alpha 1-Antitrypsin; Cystic Fibrosis; False Negative Reactions; Feces; Humans; Infant; Infant, Newborn; Mass Screening; Meconium; Protease Inhibitors; Time Factors

Topics: alpha 1-Antitrypsin; Cystic Fibrosis; Disaccharidases; False Negative Reactions; Humans; Infant, Newborn; Mass Screening; Meconium; Reagent Strips; Serum Albumin

Topics: Cystic Fibrosis; Humans; Immunoenzyme Techniques; Infant, Newborn; Meconium; Serum Albumin

Meconium ileus equivalent is a late intestinal occlusion occurring in patients suffering from mucoviscidosis. Three cases are reported in children aged, respectively, 3 years, 6 years and 10 years. In one of the observations (three year old girl), the intestinal obstruction with feces was first manifestation of a mucoviscidosis that was previously undetected. The radiological signs are identical to those found in cases of neonatal meconium ileus: intestinal obstruction and accumulation of closely spaced matter in a distended ileum (terminal part). As in cases of meconium ileus without complications, treatment consisted of enemas with water-soluble products. The high osmotic pressure of these products made it possible to remove the obstruction.

Topics: Child; Child, Preschool; Cystic Fibrosis; Enema; Female; Humans; Intestinal Obstruction; Intestine, Small; Male; Meconium

The authors report six cases of meconium peritonitis with intra-abdominal calcifications; surgical intervention was successful in four. In five patients, fibrocystic desease of pancreas was eliminated. Presenting this report, it is their intention to underline the good prognosis of calcifications which generally eliminate the meconium ileus.

Topics: Calcinosis; Cystic Fibrosis; Diagnosis, Differential; Female; Humans; Infant, Newborn; Male; Meconium; Peritonitis; Radiography

The development of the exocrine pancreas has been determined quantitatively in 31 infants with cystic fibrosis (CF) both with and without meconium ileus and in 29 control infants. In the normal pancreas, the ratio of acinar to connective tissue volume is 0.5 at 32 weeks postconceptional age (PCA) and increases linearly to 2.0 at 52 weeks PGA. In cystic fibrosis infants, with or without meconium ileus, the ration is 0.5 at 35 weeks PCA anddecreases linearly to 0.3 at 52 weeks PCA. The volume of acinar and duct lumens is greater in CF than control infants but is independent of age or acinar volume. The development of the exocrine pancreas in infants with CF with and without meconium ileus diverges from the normal pattern: There is consistent lack of exocrine tissue before or a full-term birth, which persists throghout the age range of this study. CF infants above 42 weeks PCA can be discriminated from controls on the basis of the quantitative assessment of acinar volume.

Topics: Connective Tissue; Cystic Fibrosis; Female; Gestational Age; Humans; Infant, Newborn; Male; Meconium; Pancreas; Pregnancy

Topics: ABO Blood-Group System; Cystic Fibrosis; Glycoside Hydrolases; Humans; Infant, Newborn; Meconium

Topics: Blood Proteins; Cystic Fibrosis; False Positive Reactions; Humans; Infant, Newborn; Italy; Mass Screening; Meconium

Topics: Adolescent; Adult; Child; Child, Preschool; Cystic Fibrosis; Female; Growth Disorders; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Pancreatic Diseases; Respiratory Tract Infections; Sweating

1. The mucus glycoproteins in meconium from normal infants and from infants having cystic fibrosis with meconium ileus have been studied. 2. Whereas normal meconium contained about 50% protein-bound carbohydrate, the meconium from cystic fibrosis contained only about 10%. 3. Glycopolypeptides were prepared from the mucus of glycoproteins. The oligosaccharide units from this material were released and fractionated. The fractions ranged widely in size and composition. 4. The fractions from cystic fibrosis specimens had a significantly higher content of fucose than those from normal specimens.

Topics: Carbohydrate Metabolism; Cystic Fibrosis; Fucose; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Monosaccharides; Mucoproteins; Oligosaccharides

During the 14 yr from 1965 through 1978, 49 infants presented shortly after birth with intestinal obstruction due to impacted meconium. Three of these patients did not have fibrocystic disease. Eight patients were cured by a Gastrografin enema. There were 18 patients who had complications that included associated atresia, volvulus, and/or peritonitis. Various operations were done including resection with either primary anastomosis or enterostomy or varieties of the foregoing. Twenty-three babies had the simple uncomplicated form of meconium ileus. Eleven of these underwent resection and six patients died. Twelve patients were treated by laparotomy, ileotomy through a purse-string suture and prolonged irrigations using acetylcysteine. Of this group only one succumbed. This latter course of management is recommended for patients with simple uncomplicated meconium ileus as it involves no resection, no enterostomy, nor any primary anastomosis.

Topics: Cystic Fibrosis; Female; Humans; Ileostomy; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Laparotomy; Male; Meconium; Methods

Topics: Adolescent; Albumins; Bronchitis; Child; Child, Preschool; Cystic Fibrosis; Female; Genes, Recessive; Heterozygote; Humans; Infant; Infant, Newborn; Life Expectancy; Male; Meconium; Pneumonia; Sodium Chloride; Sweat

Topics: Albumins; Cystic Fibrosis; Finland; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Meconium

The specific activities of alpha-D-mannosidase, beta-glucuronidase, beta-D-fucosidase, acid and alkaline phosphatase were studied in meconium from infants with cystic fibrosis (CF) and control subjects. The study revealed significant variations in the specific activity of the enzymes except for acid phosphatase. The variations were not uniform. The activities of alpha-D-mannosidase, beta-glucuronidase and alkaline phosphatase were markedly decreased (p less than 0.001, p less than 0.002, p less than 0.001, respectively), while the activity of beta-D-fucosidase was significantly increased (p less than 0.001) in meconium from the infants with CF. It is suggested that the decreased activity of alpha-D-mannosidase and beta-glucuronidase might contribute to the accumulation of the abnormal substances in CF meconium. The highly increased activity of beta-D-fucosidase raises the possibility of an additional or alternative method for screening newborns for CF using meconium as the test material.

Topics: Acid Phosphatase; Alkaline Phosphatase; alpha-L-Fucosidase; Cystic Fibrosis; Glucuronidase; Glycoside Hydrolases; Humans; Infant, Newborn; Mannosidases; Meconium; Phosphoric Monoester Hydrolases

Topics: beta-Galactosidase; Cystic Fibrosis; Humans; Infant, Newborn; Mass Screening; Meconium; Pilot Projects

Topics: Adolescent; Adult; Airway Obstruction; Child; Child, Preschool; Cystic Fibrosis; Female; Humans; Infant; Infant, Newborn; Infertility; Intestinal Obstruction; Liver; Lung; Male; Meconium; Middle Aged; Pancreas; Respiratory Tract Infections

In our hands, the BMC-Test Meconium has been a significant step towards the goal of developing an ideal newborn screening test for CF. It is easily performed, is highly specific, has reasonably high sensitivity, and--given its limitation of identifying only patients with CF who have intrauterine pancreatic insufficiency--is the best method of screening newborns for CF that has been devised to date. Many technical problems remain to be solved before the test can be endorsed without reservation. Because the test, as currently constituted, does not identify all potential subjects for further testing who might have CF, it should not be made mandatory. It is, however, better than other available screening methods for CF and can be praised for that benefit. The concept has indicated a valuable new direction for mass-screening possibilities and perhaps can, by future modification, be made sensitive enough to warrant universal usage.

Topics: Albumins; Cystic Fibrosis; False Negative Reactions; Humans; Infant, Newborn; Mass Screening; Meconium; Methods; Reagent Strips; Sweat; United States

Cystic fibrosis is the most frequent substantially lethal inherited disease in the United States. Newborn screening for cystic fibrosis has been suggested because early diagnosis permits genetic counselling of parents and improved treatment and prognosis for cystic fibrosis patients. The fact that cystic fibrosis newborns have abnormally high meconium albumin seems to offer the best screening approach. Because we have had equivocal and false positive results with meconium albumin test strips, we have developed a nephelometric automated immunoprecipitation method for the quantitative and specific analysis of meconium albumin. On a total of 3895 meconiums so far examined, eleven albumin elevations of undetermined origin have been detected. Nine of these were associated with prematurity. There have been, so far, no detected true positives and no known false negatives. The normal range for meconium albumin is in agreement with previously published ranges determined using manual immunochemical methods. This method is rapid and economic. The question of sensitivity, specificity and predictive value of this and other detection methods is discussed.

Topics: Albumins; Cystic Fibrosis; False Positive Reactions; Humans; Infant, Newborn; Mass Screening; Meconium; Precipitin Tests

The meconium plug syndrome (MPS) is a common cause of low intestinal obstruction in newborn infants. Usually, it is benign and not associated with other intestinal dysfunction. We describe the cases of three infants in whom there was intestinal obstruction consistent with the MPS and in which cystic fibrosis (CF) was later documented. We suggest that there is an association between the MPS and CF, and that the condition of all infants with the MPS be evaluated for the possibility of both Hirschsprung's disease and CF.

Topics: Cystic Fibrosis; Diagnosis, Differential; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Male; Meconium; Megacolon; Radiography; Syndrome

Topics: Albumins; Cystic Fibrosis; Humans; Infant, Newborn; Mass Screening; Meconium; Proteins; Time Factors

Topics: Albumins; Cystic Fibrosis; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Meconium

A case of meconium ileus equivalent in a 30-year old man is presented. The pathology and therapy for the condition are discussed.

Topics: Acetylcysteine; Adolescent; Adult; Age Factors; Child; Child, Preschool; Cystic Fibrosis; Fecal Impaction; Humans; Ileum; Infant; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Radiography; Respiration, Artificial

Topics: Cystic Fibrosis; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Prognosis

Topics: Cuba; Cystic Fibrosis; Humans; Infant, Newborn; Mass Screening; Meconium

Topics: Cystic Fibrosis; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mass Screening; Meconium; Melena

This is a case report of meconium ileus complicated by intestinal volvulus and infarction in a black infant.

Topics: Black People; Colon; Cystic Fibrosis; Ductus Arteriosus, Patent; Female; Humans; Ileostomy; Ileum; Infant; Infant, Newborn; Intestinal Obstruction; Intestine, Small; Jejunum; Meconium; Pregnancy

Two newborns with intestinal obstruction of the terminal ileum without mucoviscidosis were cured by Gastrografin enema. A further case of a premature infant showed, at autopsy, a large intestine containing normal meconium, but an ileum which was plugged with tenacious meconium containing PAS-positive and alcian blue-negative mucus. Our 3 cases were similar to cases of "meconium disease" reported by Rickham and of "meconium plug in the small intestine" reported by Emery. The primary cause of this disease lies in the large amount of PAS-positive mucus secreted from goblet cells of the ileal mucosa and the hypertrophy of lymph nodules in the ileal submucosa.

Topics: Contrast Media; Cystic Fibrosis; Enema; Female; Humans; Hypertonic Solutions; Hypertrophy; Ileum; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Mucosa; Intestinal Obstruction; Male; Meconium; Mucus

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Intestinal Obstruction; Meconium; Pancreatic Diseases; Syndrome

To assess the value of detecting albumin in meconium as a screening procedure for cystic fibrosis [CF] 68,000 meconium samples were examined by BM Meconium Test, single radial immunodiffusion and benzidine reaction. The specificity and sensitivity of this combination of tests were 99.67% and 78.57% respectively. The prevalence of CF at birth was confirmed as 1:3600 in this country. This low prevalence resulted in a relatively high number of false positives. Therefore, a positive test result has a low predictive value [3.39%] and this is a serious drawback of the method. The experiences and opinions of 37 local paediatricians about the screening programme were evaluated by a simple questionnaire. Gold's decision rule was applied. The least relative cost of misclassification justifying a mass-screening programme was 3 times higher than the actual relative cost as suggested by the aggregate opinion of paediatricians in the region. These results support the view that with the methods used screening may have more disadvantages than not screening.

Topics: Albumins; Attitude of Health Personnel; Cystic Fibrosis; False Negative Reactions; False Positive Reactions; Humans; Infant, Newborn; Mass Screening; Meconium; Netherlands; Pediatrics; Surveys and Questionnaires

Topics: Cystic Fibrosis; False Positive Reactions; Glycerol; Humans; Infant, Newborn; Infant, Newborn, Diseases; Meconium; Suppositories

Topics: Albumins; Cystic Fibrosis; Humans; Infant, Newborn; Meconium

The results of an evaluation over 4 years (1973-1976) of 16,620 BM-tests (Boehringer-Mannheim newborn screening for cystic fibrosis) at 8 hospitals in Switzerland are presented and the data from analysis of albumin, protein and alpha1-antitrypsin concentrations, and on trypsin-inhibitory capacity of the meconia are discussed. 99.5% of the tests were negative. Of the remaining 0.5% BM-positive tests, the diagnosis of cystic fibrosis required confirmation by sweat test and clinical course in 6 cases, or 0.04% of the total collective. The test was false-negative in 2 cases (0.012%), of which one had a primary pulmonary form of cystic fibrosis. The study shows that the BM-test, as screening test for cystic fibrosis, makes it possible to distinguish between "normal" and "suspect". By calculating the ratio albumin to alpha1-antitrypsin, it would be possible to verify the probability of a reliable diagnosis as early as a few days after birth. As before, however, it would be indispensable to confirm the diagnosis of cystic fibrosis by a sweat test with pilocarpin iontophoresis. By consistent screening in all obstetric and pediatric clinics it would be possible to improve early diagnosis still further.

Topics: alpha 1-Antitrypsin; Cystic Fibrosis; False Negative Reactions; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mass Screening; Meconium; Switzerland; Time Factors; Trypsin Inhibitors

Six patients with meconium ileus, in whom bowel resection and end-to-end anastomosis were performed, are presented. Meconium ileus may be simple or complicated. The simple form may be treated by Gastrografin enema. Surgery is indicated if conservative treatment fails and for patients with a complicated obstruction. Provided the bowel is disobstructed and carefully resected, end-to-end anastomosis is preferable. Confirmation of the diagnosis by careful histological examination of the resected bowel is urged.

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Albumins; Cystic Fibrosis; Humans; Infant, Newborn; Meconium; Methods

The survival rates in 204 patients suffering from cystic fibrosis observed between January 1956 and June 1976 were recorded. The patients were divided into five groups according to the symptoms present at the time of diagnosis and survival rates were recorded separately for each group. Survival was less good in the group of patients presenting initially with pulmonary symptoms compared to the group presenting with gastrointestinal symptoms. In the group presenting with meconium ileus survival was poor initially, but later in the course of the disease it became similar to that observed in the other groups. The differences in survival between the different categories occurred during the first two years after diagnosis. The study shows that, on clinical grounds, a severe form of the disease which is characterized by early manifestation of pulmonary symptoms and poor survival can be distinguished from a more protracted form with a better survival. Because of the great inter-individual variability large numbers of patients will have to be evaluated in order to achieve statistically significant results in studies which attempt to compare different therapeutic approaches. If such numbers cannot be reached, it may be necessary to compare only patients who belong to the same symptomatic category.

Topics: Child, Preschool; Cystic Fibrosis; Gastrointestinal Diseases; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Lung Diseases; Meconium; Switzerland

The Boehringer-Mannheim Corporation (BMC) strip test is extremely reliable in indicating an albumin content above 20 mg/gm of dried meconium. All infants born during one year in 14 Milwaukee area hospitals were tested. Of 16,224 newborns, two were diagnosed correctly as suffering from cystic fibrosis and two were missed. False-positive tests were obtained in 0.9% of infants (prematurity, melena, gastroschisis, and intrauterine infection). The strip test is, at present, the best available but not the perfect screening method for cystic fibrosis.

Topics: Albumins; Cystic Fibrosis; False Negative Reactions; False Positive Reactions; Female; Humans; Indicators and Reagents; Infant, Newborn; Mass Screening; Meconium; Phenolphthaleins; Reagent Strips; Sweat; Wisconsin

Twelve patients with meconium ileus equivalent complicating cystic fibrosis in the postneonatal period were seen at the Mayo Clinic in the years 1950 through 1975. In a child or young adult with known or suspected cystic fibrosis, the triad of recurrent colicky abdominal pain, a mass in the right lower quadrant, and mechanical intestinal obstruction provides a clue to diagnosis of meconium ileus equivalent. The clinical suspicion of meconium ileus equivalent may be confirmed by meglumine diatrizoate (Gastrografin) enema, which in most uncomplicated cases also serves as treatment.

Topics: Adolescent; Adult; Barium Sulfate; Child; Child, Preschool; Cystic Fibrosis; Diatrizoate Meglumine; Enema; Female; Humans; Infant; Intestinal Obstruction; Male; Meconium; Minnesota; Pain

In this study the clinical data and treatment concept in 197 patients with cystic fibrosis, seen during the past 20 years at the University Children's Hospital of Berne (Switzerland), are presented. The results showed that during recent years the median age of survival, the mean age at death and the cumulative survival rates have improved. Furthermore, this study demonstrates that by forming groups of patients with similar age at diagnosis the cumulative survival rate declined in the group with early diagnosis much more markedly than in the group of patients with later diagnosis. Further evaluation of these data revealed that most patients of the former group had a more severe form of cystic fibrosis than the latter group. Since there are different patterns of severity in this disease, it will be necessary to develop staging for the purpose of statistical comparisons.

Topics: Adolescent; Age Factors; Child; Child, Preschool; Cystic Fibrosis; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Meconium; Switzerland

Topics: Albumins; Bromphenol Blue; Cystic Fibrosis; Humans; Infant, Newborn; Mass Screening; Meconium; Methods

Topics: Albumins; Bromphenol Blue; Cystic Fibrosis; Humans; Infant, Newborn; Mass Screening; Meconium; Methods

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Infant, Newborn, Diseases; Meconium; Sweat

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Mass Screening; Meconium; Methods

Topics: Cystic Fibrosis; False Negative Reactions; Humans; Infant; Infant, Newborn; Male; Mass Screening; Meconium; Pancreas; Proteins

Topics: Acute Disease; Antifungal Agents; Candida albicans; Candidiasis; Cystic Fibrosis; Flucytosine; Fungemia; Humans; Infant, Newborn; Intestinal Obstruction; Intestine, Small; Jaundice; Male; Meconium; Rare Diseases; Vomiting

Topics: Adrenal Cortex Hormones; Albumins; Bronchi; Calcium; Calcium Metabolism Disorders; Child; Child, Preschool; Chlorides; Cystic Fibrosis; Fibroblasts; Humans; Hydrogen-Ion Concentration; Infant; Infant, Newborn; Meconium; Metabolism, Inborn Errors; Pancreatic Juice; Saliva; Sodium; Sweat; Water-Electrolyte Imbalance

Topics: Albumins; Cystic Fibrosis; False Positive Reactions; Humans; Infant, Newborn; Infant, Newborn, Diseases; Lactose; Meconium; Proteins; Sweat

Topics: Cystic Fibrosis; Evaluation Studies as Topic; False Negative Reactions; Humans; Infant, Newborn; Meconium

Topics: Celiac Disease; Child; Child, Preschool; Cystic Fibrosis; Diagnosis, Differential; Humans; Infant; Intestinal Obstruction; Iontophoresis; Meconium; Pilocarpine; Prognosis; Rectal Prolapse

Topics: Albumins; Animals; Cystic Fibrosis; Female; Fetal Diseases; Genetic Counseling; Heterozygote; Homozygote; Humans; Infant, Newborn; Infant, Newborn, Diseases; Meconium; Pregnancy; Prenatal Diagnosis; Rats

Topics: Albumins; Chlorides; Cystic Fibrosis; Humans; Infant, Newborn; Infant, Newborn, Diseases; Meconium; Nails; Prognosis; Sodium; Sweat

Topics: Albumins; Cystic Fibrosis; Humans; Infant, Newborn; Meconium; Prealbumin; Proteins; Time Factors

Topics: Albumins; Cystic Fibrosis; Denmark; Female; Humans; Indicators and Reagents; Infant, Newborn; Male; Meconium; Reagent Strips

Topics: Albumins; Clinical Enzyme Tests; Cystic Fibrosis; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Meconium

Topics: Albumins; Costs and Cost Analysis; Cystic Fibrosis; Evaluation Studies as Topic; False Negative Reactions; False Positive Reactions; Germany, West; Humans; Indicators and Reagents; Infant, Newborn; Mass Screening; Meconium

Topics: Adolescent; Adult; Child; Child, Preschool; Cystic Fibrosis; Growth Disorders; Humans; Infant; Infant, Newborn; Meconium

Topics: Cystic Fibrosis; Evaluation Studies as Topic; False Positive Reactions; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Meconium; Methods

Topics: Albumins; Cystic Fibrosis; Female; Humans; Infant, Newborn; Meconium; Pregnancy; Time Factors

The incidence of and mortality from cystic fibrosis in New Zealand for the years 1965-1971 have been reviewed. Data were obtained from hospital admission and death records. All of the 171 cases were of European parentage except for one part-Maori child. The minimum incidence of cystic fibrosis in the European population (one in 3185 live births) is comparable with that in other populations of similar background but somewhat lower than that derived by Becroft (1968). The data show that, during the period of the survey, approximately 30 percent of cystic fibrosis suffereres died at less than 12 months of age.

Topics: Child; Child, Preschool; Cystic Fibrosis; Ethnicity; Hospitalization; Humans; Infant; Intestinal Obstruction; Meconium; New Zealand; Residence Characteristics

Faecal specimens from 51 infants free of cystic fibrosis (CF) and from 9 infants with the disease were analysed for albumin and alpha1-antitrypsin content. Faeces from infants with no CF had a mean albumin content of less than 0-1 mg/g dry weight and a mean albumin: alpha1-antitrypsin ratio value of less than 0-1. Faeces from infants with CF had, with one exception, an albumin content of more than 2-0 mg/g dry weight and a ratio value greater than 3-0. It was subsequently found that the duodenal aspirate from the child with CF but whose faeces had a low albumin content and ratio value, had tryptic activity though at a much reduced level compared to the activity in aspirates from healthy infants.

Topics: Albumins; alpha 1-Antitrypsin; Cystic Fibrosis; Feces; Humans; Meconium

Topics: Cystic Fibrosis; Heterozygote; Homozygote; Humans; Infant, Newborn; Male; Meconium; Proteins

Topics: Albumins; Cystic Fibrosis; Humans; Hungary; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Meconium

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Meconium; Methods

Topics: Cystic Fibrosis; False Negative Reactions; False Positive Reactions; Genetic Counseling; Humans; Infant, Newborn; Meconium; Prognosis

During a screening programme for the detection of CF using the meconium albumin technique, the overall false-positive rate was found to be approximately 1%. When the gestational age of the infants was taken into account the false-positive rate was found to be significantly higher in preterm (8%) as compared to term infants (0.55%). This was due largely but not solely to the presence of occult blood. Possible explanations for these findings are discussed and attention drawn to the limitation of meconium albumin content as a screening technique for CF in preterm infants.

Topics: Albumins; Cystic Fibrosis; False Positive Reactions; Female; Gestational Age; Humans; Infant, Newborn; Infant, Premature; Meconium; Occult Blood; Pregnancy

Topics: Albumins; Cystic Fibrosis; Humans; Immunodiffusion; Infant, Newborn; Mass Screening; Meconium; Specimen Handling

The effectiveness of meconium screening for albumin as an indication of cystic fibrosis is examined. BM-Test Meconium was applied to 69,000 investigations. In 60 positive tests, cystic fibrosis was confirmed later. No increased albumin content was observed in four cases of cystic fibrosis.

Topics: Albumins; Cystic Fibrosis; Evaluation Studies as Topic; False Negative Reactions; False Positive Reactions; Humans; Immunodiffusion; Indicators and Reagents; Infant; Infant, Newborn; Infant, Newborn, Diseases; Iontophoresis; Mass Screening; Meconium; Methods; Phenolphthaleins; Pilocarpine; Reagent Strips

A clinical study of the albumin content in meconium was performed on two categories of newborn infants: a screening series of 8,830 infants and a high-risk group for Cystic Fibrosis (CF) of 70 infants. A single radial immunodiffusion technique and test strips were used. Three CF infants were detected in the screening series (1:3,000) and 16 in the high-risk group. The diagnostic accuracy for CF was fairly good. The specificity was 99.8% for the immunodiffusion technique and 99.2% for test strips. A high concentration of albumin in meconium was found not only in CF but also in preterm babies and infants with gastrointestinal disturbances, such as atresias, malaena neonatorum and malabsorption syndromes. The sensitivity was 90% for the immunodiffusion technique and 78% for the test strip. False-negative results were probably due to proteolytic activity and might be avoided if the samples are stored at a low temperature before analysis. CF screening of all meconiums by the use of test strips followed by analysis of positive tests by the immunodiffusion technique is suggested.

Topics: Albumins; Cystic Fibrosis; Humans; Immunodiffusion; Infant, Newborn; Infant, Premature; Mass Screening; Meconium

Topics: Birth Weight; Cystic Fibrosis; Humans; Immunodiffusion; Immunoglobulin A; Immunoglobulin G; Immunoglobulin M; Immunoglobulins; Infant, Newborn; Infant, Premature, Diseases; Meconium; Time Factors

A qualitative method of detecting elevated meconium protein concentration was compared with a method of determining meconium albumin concentration by electroimmunoassay since elevated meconium protein levels can indicate pancreatic insufficiency caused by cystic fibrosis. Between 5 and 10 per 1000 healthy infants passed meconium specimens that gave a false positive reaction with the Boehringer Mannheim test strip and contained a greater than expected concentration of albumin. It was possible to exclude pancreatic insufficiency in all of these children by determining the ratio, albumin : alpha1-antitrypsin in meconium and subsequent faecal specimens, since it was found that values of this ratio in excess of 2.0 suggested pancreatic insufficiency of the type associated with cystic fibrosis. Three of 14 neonates with subsequently proven cystic fibrosis yielded meconium specimens giving negative test strip results and low albumin concentrations. In two of these patients, the ratio, albumin : alpha1-antitrypsin in the meconium was within normal limits but, within two months of birth, the albumin : alpha1-antitrypsin ratio in the faeces of both children was greater than 3.0 suggesting that pancreatic insufficiency had developed.

Topics: Albumins; alpha 1-Antitrypsin; Chymotrypsin; Cystic Fibrosis; Feces; Humans; Immunoelectrophoresis; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Meconium; Methods

Topics: Albumins; Cystic Fibrosis; Electrolytes; Humans; Infant, Newborn; Mass Screening; Meconium; Sodium; Sweat

Topics: Cystic Fibrosis; Humans; Mass Screening; Meconium; Proteins; Sweden

Topics: Calcinosis; Castration; Cystic Fibrosis; Humans; Infant; Male; Meconium; Peritonitis; Scrotum

An incidence of the genetic recessive disease cystic fibrosis (mucoviscidosis) far in excess of that reported recently from other countries, has been encountered in the South West African Afrikaner. This has probably resulted from the immigration of a segment of the South African Afrikaner population rich in the gene, into South West Africa, where, for religious reasons and reasons of geographical isolation, the gene has persisted and, perhaps, increased in frequency. Malaria, which killed many of the early settlers, might have selectively spared carriers of the gene, thus enriching its occurrence in the population. Details of patients, particularly with regard to the criteria of diagnosis, are given with the relevant population and birth figures, from which an estimate of the incidence of the disease and of its carrier rate has been made. Screening of the newborn for the condition and the compiling of a register of potential and obligatory carriers are also discussed.

Topics: Africa, Southern; Child; Cystic Fibrosis; Gene Frequency; Heterozygote; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Male; Mass Screening; Meconium; White People

Development of a sensitive, easily performed, reliable test would be an important advance in detecting cystic fibrosis, improving genetic counselling and providing early effective treatment. The sweat chloride test, which is reliable in diagnosis, is technically too difficult for a screening program, and only reliably detects homozygotes. In contrast, the meconium test for detecting homozygote newborns is simple, inexpensive, reasonably specific but its general application has yet to be evaluated. Detection of serum components is the basis of two new tests to distinguish patients with cystic fibrosis and carriers. The effect of these serum components on ciliary activity is the principle of one test, an extremely difficult procedure that is subjective and lacks sufficient specificity for routine use. The second test, in which serum components are separated by isoelectric focusing, may provide an objective biochemical means of detecting both homozygotes and heterozygotes.

Topics: Biological Assay; Blood Proteins; Carrier State; Cystic Fibrosis; Female; Heterozygote; Homozygote; Humans; Male; Meconium; Pregnancy; Prenatal Diagnosis; Sweat

Topics: Child; Child, Preschool; Cough; Cystic Fibrosis; Diet; Drainage; Humans; Infant; Infant, Newborn; Intestinal Absorption; Intestinal Obstruction; Liver Cirrhosis; Meconium; Psychology; Respiratory Tract Infections

A child diagnosed as having cystic fibrosis by customary criteria has been given regular parenteral soya oil emulsion from near birht. Sweat tests have improved, pancreatic achylia was relieved, and the child at present remains entirely well. Correction of the essential fatty acid deficiency found in cystic fibrosis may prevent some of the manifestations of the disease.

Topics: Cystic Fibrosis; Emulsions; Female; Glycine max; Humans; Ileostomy; Infant; Infant, Newborn; Infusions, Parenteral; Intestinal Obstruction; Meconium; Oils; Pancreatic Extracts; Surgical Wound Infection; Sweat

Intraluminal bowel obstruction secondary to inspissated feces is a known complication of cystic fibrosis. When seen in the older child, it is termed "meconium ileus equivalent." We studied a case in which nonsurgical resolution of the obstruction was obtained with N-acetylcysteine enemas and pancreatic replacement enzymes given orally and by enema. The pathogenesis of this disorder and the basis for the treatment are described. Recognition of this complication and familiarity with its medical management are important in caring for the older child with cystic fibrosis.

Topics: Acetylcysteine; Child; Cystic Fibrosis; Enema; Feces; Female; Humans; Intestinal Obstruction; Lipase; Meconium

Meconium ileus represents the earliest clinical manifestation of cystic fibrosis. The differences found in the composition and amount of protein, mucoprotein, mucopolysaccharides, and reducing sugars in meconium from newborns with cystic fibrosis might be of significance relative to the pathogenesis and early diagnosis of this disease. We studied the enzymatic activity of disaccharidases (lactase, sucrase, maltase, and palatinase) in meconium of infants with cystic fibrosis and controls. We found an increase in the specific activity of these enzymes in the meconium from infants with cystic fibrosis as compared to the specific activity in meconium from normal infants. The increase in the activities, expressed as micromols per gram of protein per minute was: lactase, 100 times higher; sucrase, 18 times; maltase, 4.8 times, and palatinase, 8.9 times.

Topics: Cystic Fibrosis; Disaccharidases; Humans; Infant, Newborn; Meconium

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Intestinal Obstruction; Meconium

Eleven cases of intestinal occlusion (4 personal and 7 culled from hospital records) are presented. The importance of certain symptoms, early diagnosis and the need for minimum trauma in surgical management are discussed.

Topics: Cystic Fibrosis; Digestive System Abnormalities; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Male; Meconium

Topics: Age Factors; Child; Child, Preschool; Cystic Fibrosis; Germany, East; Humans; Infant; Intestinal Obstruction; Mass Screening; Meconium; Prognosis

Topics: Adolescent; Adult; Child; Child, Preschool; Cystic Fibrosis; Diseases in Twins; Female; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Life Expectancy; Longitudinal Studies; Male; Meconium; Pregnancy; Racial Groups; Registries; Sex Factors; Twins, Dizygotic; Twins, Monozygotic; United States

Topics: Albumins; Amino Acid Metabolism, Inborn Errors; Chromatography; Clinical Laboratory Techniques; Costs and Cost Analysis; Cystic Fibrosis; Evaluation Studies as Topic; Galactosemias; Genetic Counseling; Humans; Hyperlipidemias; Infant; Infant, Newborn; Iron; Mass Screening; Meconium; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias

Topics: Antigens; Beta-Globulins; Blood Proteins; Chymotrypsin; Cystic Fibrosis; gamma-Globulins; Humans; Immunoelectrophoresis; Immunoglobulin A; Immunoglobulin G; Infant; Meconium; Sodium Chloride; Sweat; Transferrin; Trypsin

Topics: Albumins; Cystic Fibrosis; Evaluation Studies as Topic; Humans; Immunodiffusion; Infant, Newborn; Meconium; Methods; Polysaccharides; Specimen Handling; Temperature

Topics: Albumins; Costs and Cost Analysis; Cystic Fibrosis; Electrophoresis; England; False Positive Reactions; Humans; Immunodiffusion; Infant, Newborn; Mass Screening; Meconium; Methods; Reagent Strips; Salicylates; Wales

Topics: Albumins; Cystic Fibrosis; Female; Humans; Immunodiffusion; Infant, Newborn; Meconium; Precipitin Tests; Salicylates

Topics: Child, Preschool; Cystic Fibrosis; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Radiography

Topics: Blood Protein Disorders; Cystic Fibrosis; False Negative Reactions; Humans; Male; Meconium; Pancreas; Serum Albumin; Sweat Glands

Topics: Albumins; Cystic Fibrosis; False Negative Reactions; False Positive Reactions; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Meconium; Prognosis

Topics: Albumins; Chromatography; Costs and Cost Analysis; Cystic Fibrosis; False Positive Reactions; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Meconium; Methods; Proteins

Topics: Anti-Bacterial Agents; Child Health Services; Costs and Cost Analysis; Cystic Fibrosis; England; Female; Genetic Counseling; Humans; Infant; Infant, Newborn; Mass Screening; Meconium; Physical Therapy Modalities; Pregnancy; Sweat; United States

Topics: Albumins; Cystic Fibrosis; Electrophoresis, Disc; Female; Glycosaminoglycans; Humans; Infant, Newborn; Mass Screening; Meconium; Methods; Pregnancy; Time Factors

Topics: Cystic Fibrosis; Female; Gene Frequency; Genes, Recessive; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Polymorphism, Genetic; Russia; Urban Population

Topics: Adolescent; Adult; Biopsy; Calculi; Colonic Diseases; Cystic Fibrosis; Esophageal and Gastric Varices; Female; Gallbladder Diseases; Gastrointestinal Diseases; Humans; Intestinal Mucosa; Intestinal Obstruction; Male; Meconium; Pneumatosis Cystoides Intestinalis; Splenomegaly

Topics: Cystic Fibrosis; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Lung Diseases, Obstructive; Male; Meconium; Pregnancy; Prognosis; Rectal Prolapse; Sweat; Trypsin

Topics: Candida; Candidiasis; Child, Preschool; Colon; Colonic Diseases; Cystic Fibrosis; Duodenum; Female; Humans; Hyperplasia; Infant; Infant, Newborn; Intestinal Obstruction; Liver Cirrhosis, Biliary; Male; Meconium; Pancreas; Submandibular Gland

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Mass Screening; Meconium; Proteins

Topics: Adolescent; Age Factors; Bronchitis; Child; Child, Preschool; Chlorides; Chronic Disease; Cystic Fibrosis; Diagnosis, Differential; Diagnostic Errors; Humans; Infant; Infant, Newborn; Iontophoresis; Life Expectancy; Mass Screening; Meconium; Methods; Nails; Pilocarpine; Prognosis; Proteins; Sodium; Sweat

Topics: Abdomen; Calcinosis; Cystic Fibrosis; Cysts; Female; Fetal Diseases; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Meconium; Peritonitis; Pregnancy; Radiography; Umbilicus

Topics: Animals; Cystic Fibrosis; gamma-Globulins; Goats; Humans; Immune Sera; Immunoglobulin A; Meconium

Topics: Albumins; Cystic Fibrosis; Humans; Immunodiffusion; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Meconium

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Intestinal Obstruction; Meconium; Time Factors

Topics: Albumins; Costs and Cost Analysis; Cystic Fibrosis; Humans; Infant, Newborn; Mass Screening; Meconium; Methods; Time Factors

Topics: Age Factors; Birth Weight; Cystic Fibrosis; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Male; Meconium; Postoperative Complications; Pyloric Stenosis; Time Factors

Topics: Anti-Bacterial Agents; Child; Cystic Fibrosis; Humans; Infant, Newborn; Intestinal Obstruction; Meconium; Physical Therapy Modalities

Topics: Antigen-Antibody Reactions; Cystic Fibrosis; Humans; Immunodiffusion; Immunoglobulin A; Immunoglobulin G; Immunoglobulin M; Immunoglobulins; Infant, Newborn; Meconium

Topics: Albumins; Cystic Fibrosis; False Negative Reactions; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Meconium

Topics: Autopsy; Bile; Biopsy; Child; Cystic Fibrosis; Female; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Jaundice, Neonatal; Liver; Liver Cirrhosis, Biliary; Male; Meconium

Topics: Child, Preschool; Cystic Fibrosis; Electrodes; Electrodiagnosis; Electrolytes; False Negative Reactions; Humans; Infant; Mass Screening; Meconium; Methods; Nails; Parotid Gland; Saliva; Skin; Sweat

Topics: Adolescent; Child; Child, Preschool; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Life Expectancy; Meconium; Prognosis

Topics: Contrast Media; Cystic Fibrosis; Diatrizoate; Enema; Female; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Male; Meconium; Peritonitis; Radiography

Topics: Colonic Diseases; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestinal Perforation; Meconium; Peritonitis; Radiography

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Solvents; Surface-Active Agents

Topics: Albumins; Cystic Fibrosis; Humans; Immunoassay; Infant, Newborn; Meconium

Topics: Anemia; Body Weight; Chloramphenicol; Chlortetracycline; Cough; Cystic Fibrosis; Diabetes Mellitus, Type 1; Diet Therapy; Feces; Humans; Hunger; Hypoproteinemia; Infant; Infant, Newborn; Intestinal Obstruction; Meconium; Pancreatic Juice; Pancreatin; Physical Therapy Modalities; Prognosis; Rectal Prolapse; Sweat; Tooth Discoloration; Vomiting

Topics: Cathartics; Cystic Fibrosis; Enema; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Cystic Fibrosis; Diatrizoate; Enema; Female; Humans; Infant, Newborn; Infusions, Parenteral; Intestinal Obstruction; Meconium; Osmolar Concentration; Surface-Active Agents

Topics: Cystic Fibrosis; Diatrizoate; Enema; Female; Humans; Infant, Newborn; Intestinal Obstruction; Meconium; Methods; Postoperative Complications; Radiography; Respiratory Tract Diseases

Topics: Anti-Bacterial Agents; Catheterization; Cystic Fibrosis; Germany, East; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Pneumonia; Postoperative Complications; Staphylococcal Infections

Topics: Abdomen, Acute; Aerosols; Anti-Bacterial Agents; Breathing Exercises; Cough; Cystic Fibrosis; Drainage; Heat Exhaustion; Humans; Intestinal Obstruction; Lung Diseases; Meconium; Mucus; Nasal Polyps; Physical Therapy Modalities; Pneumonia, Staphylococcal; Pneumothorax; Pulmonary Atelectasis; Rectal Prolapse; Respiratory Tract Infections; Sputum

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Methods; Peritonitis; Postoperative Complications

Topics: Bronchopneumonia; Child, Preschool; Cystic Fibrosis; Fecal Impaction; Humans; Infant, Newborn; Infant, Newborn, Diseases; Japan; Liver; Lung; Male; Meconium; Pancreas; Radiography

Topics: Abnormalities, Multiple; Cystic Fibrosis; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Male; Meconium; Pancreas; Pancreatic Diseases

Topics: Cystic Fibrosis; Diatrizoate; Enema; Female; Fluoroscopy; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Male; Meconium; Methods

Topics: Cystic Fibrosis; Diagnosis, Differential; Humans; Ileum; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Methods; Prognosis

Topics: Anti-Bacterial Agents; Body Weight; Cystic Fibrosis; Female; Humans; Infant; Infant, Newborn; Male; Meconium; Respiration; Respiratory Function Tests; Respiratory Therapy; Respiratory Tract Infections

Topics: Adolescent; Adult; Child; Child, Preschool; Cystic Fibrosis; Humans; Infant; Intestinal Obstruction; Male; Meconium; Radiography

Topics: Adolescent; Child; Child, Preschool; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Meconium

Topics: Animals; Biological Transport; Biological Transport, Active; Cats; Cell Membrane; Connective Tissue; Cystic Fibrosis; Dogs; Electrolytes; Electrophysiology; Gastric Juice; Glycosaminoglycans; Hormones; Humans; Liver Cirrhosis; Meconium; Metabolism, Inborn Errors; Mucus; Pancreas; Saliva; Serous Membrane; Sweat Glands; Water; Water-Electrolyte Balance

Topics: Animals; Biological Transport; Biological Transport, Active; Cats; Cell Membrane; Connective Tissue; Cystic Fibrosis; Dogs; Electrolytes; Electrophysiology; Exocrine Glands; Gastric Juice; Glycosaminoglycans; Hormones; Humans; Liver Cirrhosis; Meconium; Metabolism, Inborn Errors; Mucus; Pancreas; Saliva; Serous Membrane; Sweat Glands; Water; Water-Electrolyte Balance

Topics: Alpha-Globulins; Cystic Fibrosis; Densitometry; Electrophoresis; Intestinal Obstruction; Meconium; Mucoproteins; Proteins; Serum Albumin

Topics: Ampulla of Vater; Cystic Fibrosis; Female; Fetal Diseases; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestinal Perforation; Male; Meconium; Peritonitis; Polyhydramnios; Pregnancy; Radiography

Topics: Adult; Bronchiectasis; Cystic Fibrosis; Humans; Intestinal Obstruction; Intestines; Liver Function Tests; Male; Meconium; Radiography; Respiratory Tract Infections

Topics: Agglutination Tests; Blood Proteins; Cystic Fibrosis; Electrolytes; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Meconium; Sweat; Trichloroacetic Acid

Topics: Albumins; Child; Child, Preschool; Cystic Fibrosis; Electrophoresis; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Nitrogen; Proteins; Sodium; Sweat

Topics: Abdomen, Acute; Collateral Circulation; Cystic Fibrosis; Female; Fetal Diseases; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestinal Perforation; Intestines; Male; Meconium; Peritoneum; Peritonitis; Pneumoperitoneum; Pregnancy; Radiography, Abdominal; Sepsis; Stomach Rupture

Topics: Acetylcysteine; Adult; Cystic Fibrosis; Enema; Humans; Intestinal Obstruction; Male; Meconium; Mucus; Pancreas; Pharmaceutical Vehicles

Topics: Cholestasis; Cystic Fibrosis; Esophageal Perforation; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestinal Perforation; Male; Meconium; Polyhydramnios; Pregnancy; Prognosis

Topics: Child, Preschool; Cystic Fibrosis; Female; Humans; Infant; Japan; Male; Meconium; Pancreas; Pancreatic Ducts

Topics: Anti-Bacterial Agents; Cysteine; Cystic Fibrosis; Diet Therapy; Humans; Intestinal Obstruction; Meconium; Pulmonary Fibrosis; Radiography; Respiratory Therapy

Topics: Abdomen, Acute; Child, Preschool; Cystic Fibrosis; Duodenal Diseases; Esophagus; Female; Hirschsprung Disease; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature, Diseases; Intestinal Obstruction; Intestinal Perforation; Male; Meckel Diverticulum; Meconium; Posture; Pyloric Stenosis; Radiography

Topics: Acetylcysteine; Anti-Bacterial Agents; Bronchi; Bronchial Diseases; Child; Cystic Fibrosis; Digestive System; Drainage; Fecal Impaction; Humans; Hyperglycemia; Intestinal Obstruction; Liver Cirrhosis; Lung; Lung Diseases; Meconium; Mucus; Pneumatosis Cystoides Intestinalis; Respiratory Function Tests; Respiratory Insufficiency; Respiratory Therapy; Respiratory Tract Diseases; Salivary Glands; Sweat

Topics: Child, Preschool; Chlorides; Cystic Fibrosis; Female; Humans; In Vitro Techniques; Infant; Infant, Newborn; Intestinal Obstruction; Japan; Male; Meconium; Sodium; Sweat

Topics: Adult; Cystic Fibrosis; Humans; Intestinal Obstruction; Male; Meconium

Topics: Child, Preschool; Cystic Fibrosis; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium

Topics: Adolescent; Appendicitis; Child; Child, Preschool; Cystic Fibrosis; Female; Humans; Ileostomy; Infant; Intestinal Obstruction; Male; Meconium; Water-Electrolyte Balance

Topics: Congenital Abnormalities; Cystic Fibrosis; Diagnosis; Female; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestinal Pseudo-Obstruction; Meconium; Microbiology; Pathology; Polyhydramnios; Postoperative Complications; Pregnancy; Prognosis; Radiography; Statistics as Topic; Surgical Procedures, Operative

Topics: Cystic Fibrosis; Fetal Diseases; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Prognosis; Surgical Procedures, Operative

A mass of inspissated meconium in the distal colon or rectum is a relatively common cause of neonatal intestinal obstruction. The meconium-plug syndrome is unrelated to cystic fibrosis and meconium ileus. The clinical picture is frequently indistinguishable, without contrast study of the colon, from other forms of mechanical intestinal obstruction requiring laparotomy. A barium enema examination is almost always diagnostic, and use of this procedure usually results in dislodgement and passage of the plug.No single cause for the excessive viscosity and tenaciousness of the obstructive meconium mass has been identified. Previous reports have generally emphasized the normal ganglion-cell content of the colon in affected patients.Two infants are described who fulfilled all criteria for this syndrome but who were not rendered asymptomatic, as normally anticipated, by removal of the plug. Subsequent studies revealed the presence of Hirschsprung's disease in both patients. This diagnosis should be considered when an infant with meconium-plug obstruction of the colon fails to follow the usual satisfactory clinical course after the plug has been passed.

Topics: Barium Sulfate; Colonic Diseases; Colostomy; Cystic Fibrosis; Enema; Fetal Diseases; Hirschsprung Disease; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Laparotomy; Male; Meconium; Megacolon; Radiography; Rectum; Syndrome

Surgeons whose practice involves many infants and children should be acquainted with all abnormalities of pancreatic malformation and function. Conditions amenable to surgical treatment are few, but serious. Trauma to the pancreas in childhood is most commonly diagnosed by fever, leukocytosis, rectus spasm and elevated serum amylase. Drainage of the lesser sac and debridement of devitalized tissue may prevent the sequelae of pseudocyst formation which seems to follow the untreated injury. True congenital cysts are characterized by an epithelial lining.Mucoviscidosis complicated by meconium ileus remains a challenging disease of the newborn that requires early operation. Ten per cent of infants with cystic fibrosis may be threatened by intestinal obstruction from this cause. Some children surviving the newborn period go on to develop obstruction later. Annular malformation of pancreas may produce upper intestinal (duodenal) obstructive symptoms immediately after birth. Surgical correction by duodenojejunostomy should be postponed only long enough to correct severe fluid or electrolyte imbalances. Idiopathic spontaneous hypoglycemia has the most serious prognosis if convulsions are allowed to recur. Increased metabolic rates in infants increase the need for control of blood sugar levels by either administration of cortisone or pancreatic resection. If adenoma is the cause, a conservative resection of the tumor suffices. If serial frozen section fails to reveal either tumor or hypertophy of insulin-producing cells, blind pancreatectomy may be indicated, for irreversible brain damage develops early in uncontrolled hypoglycemia.

Topics: Child; Congenital Abnormalities; Cystic Fibrosis; Drainage; Female; Humans; Hypoglycemia; Infant; Infant, Newborn; Infant, Newborn, Diseases; Insulin; Intestinal Obstruction; Meconium; Neoplasm Recurrence, Local; Pancreas; Pancreatectomy; Pancreatic Cyst; Pancreatic Diseases; Surgical Procedures, Operative

Topics: Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Pathology; Radiography

Topics: Calcinosis; Cystic Fibrosis; Humans; Ileostomy; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature, Diseases; Intestinal Obstruction; Meconium; Radiography

Topics: Adolescent; Child; Cystic Fibrosis; Diagnosis; Diet; Diet Therapy; Drug Therapy; Feces; Humans; Ileus; Infant, Newborn; Intestinal Obstruction; Lipase; Meconium; Pancreatic Extracts; Pancreatin; Radiography

Topics: Cystic Fibrosis; Diagnosis; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Two of 15 children who survived neonatal meconium ileus had "meconium ileus equivalent." They were treated with hydration, pancreatic enzyme therapy and antibiotics. One of these children died from pulmonary disease at the time of the bowel obstruction. The survival rate of infants with meconium ileus is steadily improving because of prompt operative intervention, better preoperative and postoperative care and long-term treatment with enzyme supplements and antibiotics. Late intestinal obstruction due to adhesive bands, volvulus, intussusception or "meconium ileus equivalent" may occur in children previously treated for meconium ileus of infancy. The omission of pancreatic enzyme supplementation and the occurrence of respiratory infections are frequently associated with "meconium ileus equivalent."In this series of patients four of the infants treated surgically for neonatal meconium ileus died in the early postoperative period.

Topics: Anti-Bacterial Agents; Child; Cystic Fibrosis; Fetal Diseases; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestinal Pseudo-Obstruction; Intestinal Volvulus; Intussusception; Male; Meconium; Pancreas; Peritoneal Diseases; Postoperative Care; Respiratory Tract Infections; Surgical Procedures, Operative; Survival Rate

Topics: Barium; Barium Sulfate; Cystic Fibrosis; Enema; Humans; Ileus; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Radiography; Radiography, Abdominal

Topics: Cystic Fibrosis; Diseases in Twins; Female; Humans; Infant, Newborn; Infant, Premature, Diseases; Intestinal Atresia; Intestine, Small; Male; Meconium; Peritonitis

Topics: Cystic Fibrosis; Humans; Infant, Newborn; Intestinal Obstruction; Meconium

Topics: Adolescent; Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Pathology; Postoperative Complications; Prognosis; Surgical Procedures, Operative

Topics: Albumins; Chlorides; Cystic Fibrosis; Diagnosis; Humans; Immunoelectrophoresis; Infant; Infant, Newborn; Meconium; Sweat; Utah

Topics: Aerosols; Child; Cystic Fibrosis; Diagnosis; Genetics, Medical; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Meconium; Pancreatic Extracts; Pathology; Radiography; Respiratory Therapy; Surgical Procedures, Operative

Topics: Calcinosis; Congenital Abnormalities; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Atresia; Intestinal Obstruction; Intestinal Perforation; Meconium; Peritonitis; Surgical Procedures, Operative

Topics: Congenital Abnormalities; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Meconium; Pathology; Peritonitis; Surgical Procedures, Operative

Topics: Adolescent; Cystic Fibrosis; Humans; Ileus; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestinal Secretions; Meconium; Pancreatic Extracts; Pathology; Postoperative Complications; Surgical Procedures, Operative; Tetracycline

Topics: Acetylcysteine; Child; Cysteine; Cystic Fibrosis; Diagnosis; Humans; Ileus; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestinal Pseudo-Obstruction; Intussusception; Meconium; Pancreatic Extracts; Rectal Prolapse; Surgical Procedures, Operative

Topics: Acetylcysteine; Cysteine; Cystic Fibrosis; Fetal Diseases; Hernia, Umbilical; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestinal Perforation; Meconium; Peritonitis; Surgical Procedures, Operative

Topics: Abdomen; Abdomen, Acute; Cystic Fibrosis; Gastrointestinal Diseases; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Atresia; Intestinal Obstruction; Meconium; Megacolon; Peritonitis; Surgical Procedures, Operative

Topics: Cystic Fibrosis; Fetal Diseases; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Perforation; Meconium; Peritonitis; Survivors

Topics: Cystic Fibrosis; Humans; Ileus; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Anti-Bacterial Agents; Child; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Meconium; Neomycin; Nursing; Pancreatic Extracts; Physical Therapy Modalities; Tetracycline

Topics: Child; Cystic Fibrosis; Exhibitions as Topic; Humans; Hypertension; Hypertension, Portal; Infant; Infant, Newborn; Intestinal Obstruction; Intestines; Liver Cirrhosis; Meconium; Nasal Polyps; Osteoarthropathy, Secondary Hypertrophic; Pancreas; Pneumatosis Cystoides Intestinalis; Pneumothorax; Pulmonary Heart Disease; Radiography; Radiography, Thoracic; Sinusitis

Topics: Child; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Intestinal Secretions; Intestine, Small; Intestines; Meconium; Pathology

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Intestinal Obstruction; Meconium

Topics: Contrast Media; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestinal Volvulus; Meconium; Peritonitis; Radiography; Surgical Procedures, Operative

Topics: Adolescent; Anti-Bacterial Agents; Antibiotics, Antitubercular; Blood Protein Disorders; Bronchopneumonia; Child; Cystic Fibrosis; Diabetes Mellitus; Diabetes Mellitus, Type 1; Diagnosis; Diagnosis, Differential; Diet; Diet Therapy; Electrolytes; Exercise Therapy; Gastroenterology; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Liver Diseases; Meconium; Pancreatic Extracts; Sweat

Topics: Abetalipoproteinemia; Celiac Disease; Child; Cystic Fibrosis; Food Hypersensitivity; Glutens; Humans; Infant; Infant, Newborn; Intestinal Absorption; Intestinal Obstruction; Lipid Metabolism; Lipoproteins; Meconium; Povidone; Starch; Syndrome; Terminology as Topic

Topics: Cystic Fibrosis; Humans; Ileus; Infant, Newborn; Intestinal Obstruction; Meconium

Topics: Child; Colon; Constriction, Pathologic; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Peritonitis

In a review of cases of intestinal atresia or stenosis in the newborn at Children's Hospital of Los Angeles it was noted that in approximately 10 per cent there was clinical or anatomic evidence of fibrocystic disease of the pancreas. Histologic sections of the bowel in all these cases showed the alterations of the mucosa commonly found in fibrocystic disease. Extensive ulceration, foreign body reaction and calcium deposition in the bowel wall were observed in five cases. Sections through the site of obstruction in one patient showed narrowing of the diameter of the bowel with preservation of muscular layers, but replacement of the central portion by a vascular, fibrous diaphragm in which giant cells, hemosiderin and calcium were prominent. This suggested that in certain instances obstruction of the intestine may be caused by fibrosis secondary to injury of the mucosa by abnormal meconium. Awareness of the common association of intestinal obstruction and fibrocystic disease of the pancreas and recognition of the histologic change in the bowel in fibrocystic disease may lead to early diagnosis of this disorder in some infants with intestinal obstruction.

Topics: Child; Constriction, Pathologic; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Atresia; Intestinal Obstruction; Intestines; Los Angeles; Meconium; Pancreas

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestinal Pseudo-Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestinal Pseudo-Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Fetal Diseases; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Fetal Diseases; Humans; Ileus; Infant; Infant, Newborn; Intestinal Obstruction; Meconium; X-Rays

Topics: Child; Cystic Fibrosis; Fetal Diseases; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Proteins

Topics: Cystic Fibrosis; Humans; Ileus; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Viscosity

Topics: Anastomosis, Roux-en-Y; Child; Cystic Fibrosis; Disease Management; Humans; Ileostomy; Ileus; Infant; Infant, Newborn; Intestinal Obstruction; Meconium; Pancreas

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Peritonitis

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Pulmonary Atelectasis

Topics: Child; Cystic Fibrosis; Fetal Diseases; Humans; Ileus; Infant; Infant, Newborn; Intestinal Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Fetal Diseases; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Any newborn who continues to vomit in the first few days of life, particularly if the vomitus contains bile and if the abdomen is distended, should have immediate investigation because intestinal obstruction in the newborn is a fatal condition unless promptly recognized and surgically corrected. The most common cause of obstruction at this age is atresia and the simplest possible surgical procedure which adequately corrects this deformity should be done. It is also possible to successfully correct the obstruction caused by other congenital deformities such as annular pancreas and meconium ileus. Although prematurity is a definite factor in the outcome, intestinal obstruction in the newborn can be corrected with a surprisingly low mortality. Occasionally unusual methods are needed to tide these infants over the critical period of postoperative care.

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature; Intestinal Obstruction; Meconium; Pancreas; Pancreatic Diseases

Topics: Child; Colostomy; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Intestinal Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Disease; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestine, Small; Meconium; Pancreas; Pancreatic Diseases; Survivors

Topics: Child; Cystic Fibrosis; Disease; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Diseases; Intestinal Obstruction; Intestines; Meconium; Pancreas; Pancreatic Diseases

Topics: Child; Cystic Fibrosis; Disease; Humans; Ileum; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestinal Volvulus; Meconium; Pancreas; Pancreatic Diseases; Peritonitis

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Cysts; Disease; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Pancreas; Pancreatic Diseases

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Intestinal Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Disease; Humans; Ileus; Infant; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Pancreas; Pancreatic Diseases

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Cystic Fibrosis; Disease; Fetal Diseases; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Meconium; Pancreas; Pancreatic Diseases; Peritonitis

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Child; Cystic Fibrosis; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Cystic Fibrosis; Humans; Ileus; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Pancreas

Topics: Cystic Fibrosis; Humans; Ileus; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Pancreas

Topics: Blood; Blood Group Antigens; Cystic Fibrosis; Humans; Ileus; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Polysaccharides

Topics: Cystic Fibrosis; Humans; Ileus; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Cystic Fibrosis; Humans; Ileus; Infant, Newborn; Intestinal Obstruction; Intestine, Small; Intestines; Meconium; Pancreas

Topics: Cystic Fibrosis; Fetal Diseases; Humans; Ileus; Infant, Newborn; Meconium; Polysaccharides

Topics: Cystic Fibrosis; Humans; Ileus; Infant, Newborn; Intestinal Obstruction; Intestinal Pseudo-Obstruction; Meconium

Topics: Cystic Fibrosis; Humans; Ileus; Infant, Newborn; Intestinal Obstruction; Intestinal Pseudo-Obstruction; Meconium

Topics: Celiac Disease; Cystic Fibrosis; Humans; Ileus; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium

Topics: Cystic Fibrosis; Humans; Ileus; Infant, Newborn; Intestinal Obstruction; Intestinal Pseudo-Obstruction; Intestines; Meconium