Article

Clinical phenotypic and genotypic analysis of Gitelman syndrome in children

2025-12-01

Abstract excerpt

<title>Abstract</title> <p>Background Gitelman syndrome (GS) is a rare autosomal recessive tubulopathy caused by SLC12A3 mutations, leading to hypokalemic metabolic alkalosis and other electrolyte disturbances. This study aimed to investigate the genotype and clinical phenotype in pediatric patients with GS. Methods This retrospective study enrolled 29 pediatric patients from 2012 to 2022 in China. The clinica...

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Literature Corpus work: f3110b06-4580-564a-8516-edcc07d8ca54
DOI: 10.21203/rs.3.rs-8174411/v1

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