Congenital chloride diarrhea: a case report

ABSTRACT

Congenital chloride diarrhea [CCD] is a rare autosomal recessive disorder of intestinal chloride absorption. Pathognomonic features consist of watery diarrhea, failure to thrive, dehydration and hypokalemic hypochloremic metabolic alkalosis. This is the report on an 8-month old Iranian girl with severe and complicated course of CCD and poor response to current treatment. In addition, she had a renal tubular defect in uric acid handling, resulted in persistent hyperuricosuria and hypouricemia. Specific characteristics of CCD in our population need additional investigation. But, it is recommended to consider CCD in any patient with severe resistant diarrhea to prevent its irreversible and long term organ damage