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Article

Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes.

BMC medical genetics - 15 Apr 2020

Lindberg Eva, Moller Claes, Kere Juha, Wedenoja Satu, Anderzén-Carlsson Agneta

Abstract excerpt

BACKGROUND: Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chronic diarrheal disorder causes severe dehydration and electrolyte disturbances. Homozygous variants in the nearby gene SLC26A4 disrupt anion exchange in the inner ear and the thyroid, causing...

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Identifiers

PMID: 32295532
DOI: 10.1186/s12881-020-01023-z
PMCID: PMC7160968

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