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A Case of Congenital Chloride Diarrhea in Premature Infant

Journal of the Korean Pediatric Society 2003;46(3):308-311.
Published online March 15, 2003.
A Case of Congenital Chloride Diarrhea in Premature Infant
Sung Kwan Yoon, Eun Young Kim, Kyung Rye Moon, Sang Kee Park
Department of Pediatrics, College of Medicine, Chosun University, Gwangju, Korea
Congenital Chloride Diarrhea 1례
윤성관, 김은영, 문경래, 박상기
조선대학교 의과대학 소아과학교실
Eun Young Kim, Email: sskey@chosun.ac.kr
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.
Key Words: Congenital chloride diarrhea, Abdominal distension, Metabolic alkalosis

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