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

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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Bibliographic Details
Main Authors: Maria Clara Novais de Matos, Fábio Correia, Maria Inês Silva, Sofia Carola, Ana Órfão, Maria Ferreira, Maria Teresa Branco
Format: Article
Language:English
Published: SMC MEDIA SRL 2021-01-01
Series:European Journal of Case Reports in Internal Medicine
Subjects:
gitelman syndrome
hypokalaemia
hereditary renal tubulopathy
slc12a3 mutations
Online Access:https://www.ejcrim.com/index.php/EJCRIM/article/view/2182

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https://www.ejcrim.com/index.php/EJCRIM/article/view/2182

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