Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings

BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of...

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Detalles Bibliográficos
Autores principales: van der Merwe, Pieter Du Toit, Rensburg, Megan A., Haylett, William L., Bardien, Soraya, Davids, M. Razeen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5270235/
https://www.ncbi.nlm.nih.gov/pubmed/28125972
http://dx.doi.org/10.1186/s12882-017-0455-3

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