Congenital Chloride Diarrhea: A Case Report

Objective: Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder of intestinal hloride absorption. Pathognomonic features consist of watery diarrhea, failure tothrive, dehydration and hypokalemic hypochloremic metabolic alkalosis.Case Presentation: This is the report on an 8-month old Iranian girl with severe and complicatedcourse of CCD and poor response to current treatment. In addition, she had a renal tubular defectin uric acid handling, resulted in persistent hyperuricosuria and hypouricemia.Conclusion: 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 preventits irreversible and long term organ damage.