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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...
Sparad:
| I publikationen: | Eur J Case Rep Intern Med |
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| Huvudupphovsmän: | , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
SMC Media Srl
2021
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| Ämnen: | |
| Länkar: | 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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