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Update on SLC26A3 mutations in congenital chloride diarrhea.

Human mutation - 1 Jul 2011

Wedenoja Satu, Pekansaari Elina, Höglund Pia, Mäkelä Siru, Holmberg Christer, Kere Juha

Abstract excerpt

Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with around 250 cases reported so far. Life-long secretory diarrhea is caused by mutations in the solute carrier family 26 member 3 (SLC26A3) gene disrupting the epithelial Cl(-) /HCO 3- transport in the ileum and colon. Although salt substitution allows favorable outcome, possible manifestations include renal impairment, intestinal...

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PMID: 21394828
DOI: 10.1002/humu.21498

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CFTR

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Source receipt: pubmed, retrieved 7 Sept 2026.

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