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Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation

Gitelman syndrome (GS) is a hereditary renal tubulopathy caused by mutations in the SLC12A3 gene which encodes the thiazide-sensitive apical sodium-chloride cotransporter. GS is characterized by hypokalaemia, hypomagnesaemia and metabolic alkalosis. Treatment is based on potassium and magnesium repl...

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Dades bibliogràfiques
Publicat a:Eur J Case Rep Intern Med
Autors principals: Matos, Clara, Correia, Fábio, da Silva, Inês Nunes, Carola, Sofia, Órfão, Ana, Ferreira, Maria, Branco, Teresa
Format: Artigo
Idioma:Inglês
Publicat: SMC Media Srl 2021
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7875576/
https://ncbi.nlm.nih.gov/pubmed/33585337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12890/2021_002182
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