Frontiers in pediatrics · 2026
Clinical phenotypes and genetic analysis of 30 children with Gitelman syndrome.
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Wang Wenyan, Zhao Fei, Ding Guixia, Huang Songming, Cheng Xueqin
Аннотация
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.
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.