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Article

Clinical and genetic features in 30 children with Gitelman syndrome.

BMC nephrology - 17 Mar 2026

Sheng Qian-Qian, He Shu-Min, Ding Gui-Xia

Abstract excerpt

BACKGROUND: Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disorder caused by SLC12A3 gene variants. This study aimed to retrospectively analyze the clinical and genetic characteristics of pediatric GS patients and validate the function of a novel splicing variant. METHODS: Thirty genetically confirmed GS patients admitted to the Children’s Hospital of Nanjing Medical University between August...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41845298
DOI: 10.1186/s12882-026-04900-6
PMCID: PMC13107858

Genes

SLC12A3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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