A Case of Congenital Chloride Diarrhea in Premature Infant

Congenital Chloride Diarrhea 1례

Congenital chloride diarrhea is a serious autosomal recessive disease, and defect of intestinal electrolyte absorption that involves, specifically, $Cl^-/{HCO_3}^-$ 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 $Cl^-/{HCO_3}^-$ 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.

저자들은 복부 팽만과 체중감소를 주소로 내원한 신생아에서 복부 팽만이 심하여 기계적 장 폐색을 의심하여 시험적 개복술 시행하였으나, 폐색 소견 발견되지 않았고 이후 대변의 염소 이온 농도를 검사한 결과 CLD로 진단된 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.