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Congenital chloride diarrhea: A single center experience with ten patients.
Annals of Saudi Medicine 1995 September
Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder characterized by life-long watery diarrhea with a high fecal chloride concentration. We report the clinical and laboratory data in 20 Saudi infants with CCD admitted to our center between January 1986 and December 1991. In addition to diarrhea, there was a history of maternal polyhydramnios, low birth weights, abdominal distention and failure to thrive. The mean serum and stool chloride concentrations were 71 and 146 mmol/L respectively. Diagnosis was frequently delayed in spite of the early symptoms and the unique association of diarrhea with hypochloremic alkalosis. Treatment with NaCl and KCI solutions in amounts titrated to correct their electrolyte depletion and metabolic alkalosis resulted in marked clinical improvement and growth catch-up. Congenital chloride diarrhea should be suspected in patients with watery stools starting in teh neonatal period or early infancy. The diagnosis is confirmed by the presence of a high fecal chloride concentration and the concomitant hypochloremic alkalosis.
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