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Gitelman syndrome with normocalciuria – a case report

BACKGROUND: Gitelman Syndrome (GS) is a hereditary tubulopathy associated with a biallelic inactivating mutations of the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter (NCCT). The typical clinical manifestation is a hypokalemic metabolic alkalosis with significant hypomag...

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Detalles Bibliográficos
Autores principales:	Flisiński, Mariusz, Skalska, Ewa, Mączyńska, Barbara, Butt-Hussaim, Natalia, Sobczyńska-Tomaszewska, Agnieszka, Haus, Olga, Manitius, Jacek
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9069753/ https://www.ncbi.nlm.nih.gov/pubmed/35509038 http://dx.doi.org/10.1186/s12882-022-02782-y

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