Gitelman syndrome with normocalciuria – a case report

Gitelman syndrome with normocalciuria – a case report

Abstract 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...

Full description

Bibliographic Details
Main Authors: Mariusz Flisiński, Ewa Skalska, Barbara Mączyńska, Natalia Butt-Hussaim, Agnieszka Sobczyńska-Tomaszewska, Olga Haus, Jacek Manitius
Format: Article
Language:English
Published: BMC 2022-05-01
Series:BMC Nephrology
Subjects:
Gitelman syndrome
Tubulopathy
Urinary calcium excretion
Normocalciuria
Aldosterone
A case-report
Online Access:https://doi.org/10.1186/s12882-022-02782-y

Internet

https://doi.org/10.1186/s12882-022-02782-y

Similar Items