Congenital chloride diarrhea [Supplementary Concept]
A hereditary autosomal recessive form of severe chronic diarrhea characterized by excretion of large amounts of watery stool containing high levels of CHLORIDES, resulting in DEHYDRATION, HYPOKALEMIA, and metabolic ALKALOSIS. This disorder phenotypically resembles the renal disorder BARTTER SYNDROME (OMIM: 607364), however, it is not associated with calcium level abnormalities. Mutations in the SLC26A3 gene have been identified. OMIM: 214700
Date introduced: August 25, 2010
MeSH Unique ID: C536210
Heading Mapped to:
Entry Terms:
- Diarrhea 1, secretory chloride, congenital
- Chloridorrhea, congenital
- Congenital chloridorrhea
- Darrow-Gamble disease