All issues > Volume 46(3); 2003

Case Report

J Korean Pediatr Soc. 2003;46(3):308-311. Published online March 15, 2003.

A Case of Congenital Chloride Diarrhea in Premature Infant

Sung Kwan SK Yoon¹, Eun Young EY Kim¹, Kyung Rye KR Moon¹, Sang Kee SK Park¹

¹Department of Pediatrics, College of Medicine, Chosun University, Gwangju, Korea

Correspondence Eun Young EY Kim ,Email: sskey@chosun.ac.kr

Abstract

Congenital chloride diarrhea is a serious autosomal recessive disease, and defect of intestinal electrolyte absorption that involves, specifically, Cl－/HCO3－ exchange in the distal part of the ileum and colon. The clinical feature is dominated by profuse, watery diarrhea containing high concentrations of chloride(>90 mmol/L) and sodium. The chloride loss results in severe dehydration with a hypochloremic alkalosis. The molecular pathology involves an epithelial Cl－/HCO3－ exchanger protein. Mucosal ion transport is affected to differing degrees and the severity of the disease may thus vary. Recently, a gene defect on chromosome 7 has been identified. However, there was a deficit in replacement of fluid and electrolyte, abdominal distension remained and the character of stools was watery. We report a case of congenital chloride diarrhea in a premature female who presented with watery diarrhea containing high concentrations of chloride and abdominal distension.

Keywords :Congenital chloride diarrhea, Abdominal distension, Metabolic alkalosis