A Family with Gitelman Syndrome with Asymptomatic Phenotypes while Carrying Reported SLC12A3 Mutations

A Family with Gitelman Syndrome with Asymptomatic Phenotypes while Carrying Reported SLC12A3 Mutations

Gitelman syndrome (GS) is an autosomal recessive disorder characterized by alkalosis, hypokalemia, and hypomagnesemia. Although hundreds of genetic variants associated with GS have been reported, many of them are categorized as of uncertain significance in ClinVar. Here, we describe a pediatric GS p...

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Bibliographic Details
Main Authors: Moena Ishikawa, Yumi Tada, Hiromu Tanaka, Wataru Morii, Masako Inaba, Hidetoshi Takada, Takayasu Mori, Emiko Noguchi
Format: Article
Language:English
Published: Karger Publishers 2020-07-01
Series:Case Reports in Nephrology and Dialysis
Subjects:
acid-base equilibrium
gitelman syndrome
compound heterozygote
Online Access:https://www.karger.com/Article/FullText/507845

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