ArticleFrontiers in pediatrics2026
Clinical phenotypes and genetic analysis of 30 children with Gitelman syndrome.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: To investigate the clinical phenotype, SLC12A3 gene spectrum, and genotype-phenotype correlation in Chinese children with Gitelman syndrome (GS). Methods: Clinical and genetic data of 30 genetically confirmed pediatric GS cases (2015-2025) were retrospectively analyzed. Patients were grouped by sex, serum potassium level, and mutation functional domain. Results: Mean onset age was 7.9 ± 3.4years. Common manifestations included muscle weakness (50%) and limb numbness (40%). All patients had hypokalemia; 90% had hypomagnesemia. Female patients exhibited more limb numbness and lower serum calcium. Severe hypokalemia (<2.5 mmol/L) was associated with tetany, dyslipidemia, and increased urinary potassium excretion. Genetic testing identified 55 SLC12A3 variants (6 novel), with high-frequency mutations c.1456G > A (p.D486N) and c.179C > T (p.T60M). No phenotypic difference was found based on functional domain classification. Conclusion: Pediatric GS shows significant clinical heterogeneity. Severe hypokalemia is accompanied by early dyslipidemiaindicates. SLC12A3 variants are diverse; functional domain alone cannot predict phenotype. Early screening and long-term follow-up are essential for optimal management.
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