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

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-cons...

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Bibliographic Details
Main Authors: Chandrika Jayakanthi Subasinghe, Nirmala Dushyanthi Sirisena, Chula Herath, Knut Erik Berge, Trond Paul Leren, Uditha Bulugahapitiya, Vajira Harshadeva Weerabaddana Dissanayake
Format: Article
Language:English
Published: BMC 2017-04-01
Series:BMC Nephrology
Subjects:
Genetics
Gitelman syndrome
Hypokalaemia
Salt-losing nephropathy
SLC12A3
Case report
Online Access:http://link.springer.com/article/10.1186/s12882-017-0563-0

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http://link.springer.com/article/10.1186/s12882-017-0563-0

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