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

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-consanguine...

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Detalles Bibliográficos
Autores principales: Subasinghe, Chandrika Jayakanthi, Sirisena, Nirmala Dushyanthi, Herath, Chula, Berge, Knut Erik, Leren, Trond Paul, Bulugahapitiya, Uditha, Dissanayake, Vajira Harshadeva Weerabaddana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5406964/
https://www.ncbi.nlm.nih.gov/pubmed/28446151
http://dx.doi.org/10.1186/s12882-017-0563-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5406964/
https://www.ncbi.nlm.nih.gov/pubmed/28446151
http://dx.doi.org/10.1186/s12882-017-0563-0

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