| A Case of Congenital Chloride Diarrhea in Premature Infant |
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Sung Kwan Yoon, Eun Young Kim, Kyung Rye Moon, Sang Kee Park |
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Department of Pediatrics, College of Medicine, Chosun University, Gwangju, Korea |
| Congenital Chloride Diarrhea 1례 |
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윤성관, 김은영, 문경래, 박상기 |
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조선대학교 의과대학 소아과학교실 |
Correspondence:
Eun Young Kim, Email: sskey@chosun.ac.kr
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| Abstract |
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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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