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

BMC nephrology - 26 Apr 2017

Subasinghe Chandrika Jayakanthi, Sirisena Nirmala Dushyanthi, Herath Chula, Berge Knut Erik, Leren Trond Paul, Bulugahapitiya Uditha, Dissanayake Vajira Harshadeva Weerabaddana

Abstract excerpt

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 renal potassium wasting, hypomagnesemia, hypocalciuria and...

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Identifiers

PMID: 28446151
DOI: 10.1186/s12882-017-0563-0
PMCID: PMC5406964

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