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...

Descripción completa

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

Internet

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

Ejemplares similares