morphine and Metabolism--Inborn-Errors

Congenital chloride diarrhea (CLD) is a rare autosomal recessive disorder characterized by watery diarrhea with a high level of fecal Cl. Articles published between 1 January 1965 and 31 December 2019, reported in PUBMED and EMBASE, were evaluated for a systematic review analyzing four categories: anamnestic features, clinical features, management, and follow-up strategies.. Fifty-seven papers reporting information on 193 CLD patients were included. The most common anamnestic features were positive family anamnesis for chronic diarrhea (44.4%), consanguinity (75%), polyhydramnios (98.3%), preterm delivery (78.6%), and failure to pass meconium (60.7%). Mean age at diarrhea onset was 6.63 days. Median diagnostic delay was 60 days. Prenatal diagnosis, based on molecular analysis, was described in 40/172 (23.3%). All patients received NaCl/KCl-substitutive therapy. An improvement of diarrhea during adulthood was reported in 91.3% of cases. Failure to thrive (21.6%) and chronic kidney disease (17.7%) were the most common complications.. This analysis of a large population suggests the necessity of better strategies for the management of CLD. A close follow-up and a multidisciplinary approach is mandatory to manage this condition characterized by heterogeneous and multisystemic complications.. In this systematic review, we describe data regarding anamnestic features, clinical features, management, and follow-up of CLD patients obtained from the largest population of patients ever described to date. The results of our investigation could provide useful insights for the diagnostic approach and the management of this condition.

Topics: Diarrhea; Feces; Humans; Infant, Newborn; Meconium; Metabolism, Inborn Errors; Mutation, Missense

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

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

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; 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: 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