The concomitance of Gitelman syndrome with nephrocalcinosis in a case followed-up for primary biliary cirrhosis

Autor:	Melya Pelin Kırık, Can Hüzmeli
Jazyk:	English<br />Ukrainian
Rok vydání:	2023
Předmět:	Gitelman syndrome primary biliary cirrhosis nephrocalcinosis hypokalemia. Diseases of the genitourinary system. Urology RC870-923
Zdroj:	Український Журнал Нефрології та Діалізу, Iss 3(79) (2023)
Druh dokumentu:	article
ISSN:	2304-0238 2616-7352
DOI:	10.31450/ukrjnd.3(79).2023.01
Popis:	Gitelman syndrome is a rare autosomal recessive renal tubular disease characterized by hypokalemia, metabolic alkalosis, and hypocalciuria. The syndrome develops as a result of various mutations in the SLC12A3 gene. This manuscript aims to highlight the association of Gitelman Syndrome with nephrocalcinosis in a 48-year-old female patient who presented with pain and cramps in the lower limbs.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/5c5d28b30f314971b378033b21ff5985 Zobrazit plný text záznamu View record in DOAJ