Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report

Abstract

BACKGROUND Gitelman syndrome (GS) is a rare autosomal recessively inherited salt-wasting tubulopathy associated with mutations in the SLC12A3 gene, which encodes for NaCl cotransporter (NCC) in the kidney. CASE PRESENTATION In this report, we describe two siblings from a Sri Lankan non-consanguineous family presenting with hypokalaemia associated with… (More)
DOI: 10.1186/s12882-017-0563-0

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