trypsinogen and Respiratory-Tract-Infections

Cystic fibrosis (CF) is one of the most commonly diagnosed genetic disorders. Clinical characteristics include progressive obstructive lung disease, sinusitis, exocrine pancreatic insufficiency leading to malabsorption and malnutrition, liver and pancreatic dysfunction, and male infertility. Although CF is a life-shortening disease, survival has continued to improve to a median age of 46.2 years due to earlier diagnosis through routine newborn screening, promulgation of evidence-based guidelines to optimize nutritional and pulmonary health, and the development of CF-specific interdisciplinary care centers. Future improvements in health and quality of life for individuals with CF are likely with the recent development of mutation-specific modulator therapies. In this review, we will cover the current understanding of the disease manifestations, diagnosis, and management as well as common complications seen in individuals with CF.

Topics: Bone Density; Child; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Female; Humans; Infant; Infant, Newborn; Liver Diseases; Lung; Lung Transplantation; Male; Respiratory Tract Infections; Trypsinogen; Vitamins

Cystic fibrosis (CF), the most common lethal genetic disease affecting Caucasians, is a multi-system illness, most frequently characterized by childhood chronic obstructive pulmonary disease, pancreatic exocrine insufficiency, and abnormal sweat electrolyte concentrations. The diagnosis of CF is based on a combination of the above clinical findings and/or a positive family history of the illness in conjunction with an abnormal sweat test. The quantitative pilocarpine iontophoresis test is the sole acceptable method for diagnostic confirmation of the clinical suspicion of CF. A recent advance in the diagnosis of CF has been in the development of methods for neonatal detection. The immunoreactive trypsinogen (IRT) detection test is practical, adaptable to large scale screening of dried neonatal blood spots, relatively inexpensive, and promising for the detection of newborns with CF who have pancreatic insufficiency. However, the reliability and validity of this method have not yet been adequately established. Major advances in the treatment of patients with CF have emerged in the last decades, particularly in supportive pulmonary and nutritional care.

Topics: Adolescent; Anti-Bacterial Agents; Child; Child, Preschool; Chlorides; Cystic Fibrosis; Humans; Infant; Infant, Newborn; Mass Screening; Pancreatitis; Pilocarpine; Respiratory Tract Infections; Sweat; Trypsinogen

An unavoidable outcome of cystic fibrosis newborn screening (CF NBS) programs is the detection of infants with an indeterminate diagnosis. The United States CF Foundation recently proposed the term cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS) to describe infants with elevated immunoreactive trypsinogen (IRT) on NBS who do not meet diagnostic criteria for CF. The objective of this study was to describe the clinical outcomes of infants with CRMS identified through an IRT/DNA algorithm. We reviewed the records of all infants with CRMS diagnosed at our CF Center from 2002 to 2010. We identified 12 infants, and compared them to 27 infants diagnosed with CF by NBS. Compared to CF patients, CRMS patients were more likely to be pancreatic sufficient as assessed by fecal elastase measurement (100% vs. 8%, P < 0.01). Their weight for age percentile was normal from birth. A positive oropharyngeal (OP) culture for Pseudomonas aeruginosa (Pa) was found in 25% of CRMS patients. One patient with the F508del/R117H/7T genotype was reassigned the diagnosis of CF after he had a positive OP culture for Pa, and his follow up sweat Cl at 1 year of life was 73 mmol/L. CF patients were more likely to receive oral antibiotics and be hospitalized for pulmonary symptoms. Our results indicate that CRMS patients can develop signs of CF disease, but have a milder clinical course than CF infants. Close initial monitoring of these patients is warranted. Pediatr. Pulmonol. 2011; 46:1079-1084. © 2011 Wiley Periodicals, Inc.

Topics: Anti-Bacterial Agents; Child, Preschool; Chlorides; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Feces; Female; Hospitalization; Humans; Infant; Infant, Newborn; Male; Metabolic Syndrome; Monitoring, Physiologic; Neonatal Screening; Oropharynx; Pancreatic Elastase; Pseudomonas aeruginosa; Pseudomonas Infections; Respiratory Tract Infections; Retrospective Studies; Sweat; Trypsinogen