Case report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review

A 36-year-old unmarried male chef was incidentally diagnosed with hypokalemia during an evaluation for an acute perianal abscess. Despite potassium supplementation, he developed progressive weakness in his lower limbs, culminating in an inability to stand. Investigations confirmed severe hypokalemia...

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Bibliographic Details

Published in:	Frontiers in Genetics
Main Authors:	Xiaochen Ji, Nan Zhao, Haixia Liu, Yutong Wu, Lichao Liu
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2024-07-01
Subjects:	gitelman syndrome diabetes mellitus hypokalaemia hyponatraemia SGLT2 inhibitors
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1391015/full