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Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome

29 Apr 2021

Abstract excerpt

Gitelman syndrome (GS, OMIM 263800 ) is a genetic congenital tubulopathy associated with salt loss, which is characterized by hypokalemic metabolic toxicity, hypocalciuria, and hypomagnesemia. GS, which is typically detected in adolescence or adulthood, has long been considered a benign tubular lesion; however, the disease is associated with a significant decrease in the quality of life. In this study, we...

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Identifiers

PMID: 33996672
DOI: 10.3389/fped.2021.544925

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