title: Congenital chloride diarrhea. A study in Arab children.
abstract: Congenital chloride diarrhea (CCD) is a common metabolic disorder in Saudi children with an incidence of 1 in 5,500. The present retrospective study from Saudi Arabia, over 7.5 years, presents the clinical, biochemical, and treatment details in 10 children with CCD. The perinatal characteristics of maternal polyhydramnios, prematurity, abdominal distention, and diarrhea were seen in 100% and hyperbilirubinemia in 90% of patients. Hypokalemic hypochloremic metabolic alkalosis was a feature in 50% of the children and acidosis in both neonates. Fecal chloride greater than 100 mmol/L in 100% and fecal chloride greater than the sum of fecal sodium and potassium were found in 55% of patients. The mean age at the time of diagnosis was 10 months and the mean duration of follow-up for the group was 38 months (range 2-89 months). Eight of the nine patients treated with continuous oral electrolyte solution demonstrated "catch-up" physical growth. Mental subnormality, growth retardation, and renal impairment were seen in one patient who failed to comply with the treatment. Cerebral palsy in another child was due to neonatal intraventricular hemorrhage.
authors.affiliation: Department of Pediatrics, King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia.
authors.forename: A F
authors.initials: AF
authors.lastname: Kagalwalla
mesh_terms: D000471:Alkalosis / Q000151:congenital* / Q000453:epidemiology / Q000235:genetics*; D002712:Chlorides / Q000378:metabolism*; D003968:Diarrhea, Infantile / Q000151:congenital* / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005387:Finland / Q000453:epidemiology; D005808:Genes, Recessive; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors; D015995:Prevalence; D012189:Retrospective Studies; D012529:Saudi Arabia / Q000453:epidemiology
chemical_list: D002712:Chlorides