Gitelman Syndrome: a Сlinical and Molecular Overview

Gitelman Syndrome: a Сlinical and Molecular Overview

Gitelman syndrome (OMIM #263800) is an autosomal recessive renal tubular disorder due to loss of function mutations of SLC12A3 gene, encoding the thiazide-inhibitable, electroneutral Na+-Cl– cotransporter (NCC) of the distal convoluted tubule. Clinical consequences include chronic normotensive hypok...

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Bibliographic Details
Main Authors: Maria Luisa Querques, Federica Ravera, Alberto Menegotto, Giacomo Colussi
Format: Article
Language:English
Published: Publishing House Zaslavsky 2015-08-01
Series:Počki
Subjects:
Gitelman syndrome
renal tubulopathy/tubular disorder
SLC12A3 gene
Na+-Cl– cotransporter
hypokalemia
hypocalciuria
metabolic alkalosis
chondrocalcinosis
tetany
Online Access:http://kidneys.zaslavsky.com.ua/article/view/74915

Internet

http://kidneys.zaslavsky.com.ua/article/view/74915

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