A Case of Congenital Chloride Diarrhea in Premature Infant
Journal of the Korean Pediatric Society
;
: 308-311, 2003.
Article
in Korean
| WPRIM
| ID: wpr-44744
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Sodium
/
Chromosomes, Human, Pair 7
/
Infant, Premature
/
Genes, vif
/
Ion Transport
/
Colon
/
Dehydration
/
Diarrhea
/
Absorption
/
Alkalosis
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
2003
Type:
Article
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