ArticleHuman genomics2025
Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.
Article in Human genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Mitochondrial dysfunction drives metabolic reprogramming in Gitelman syndrome: insights from proteomics and isogenic modeling.Human genetics · 2026Article
- Clinical and genetic features in 30 children with Gitelman syndrome.BMC nephrology · 2026Article
- Clinical phenotypes and genetic analysis of 30 children with Gitelman syndrome.Frontiers in pediatrics · 2026Article
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Authors and funding
5 authors.
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Abstract
backgroundGitelman syndrome (GS) is a rare tubulopathy with clinical and genetic heterogeneity. This study aimed to investigate the characteristics of Chinese GS patients.
methodsThe diagnosis of GS was established by combining clinical phenotypes with genetic testing, after which the clinical, biochemical, and genetic data were statistically analyzed.
resultsWe reported 95 Chinese GS patients aged 2-52 years. The younger group (≤ 16 years) had more frequent febrile episodes (20.4% vs. 4.3%, P = 0.028) and nausea/vomiting (12.2% vs. 0.0%, P = 0.027) but fewer paresthesia/numbness (20.4% vs. 43.5%, P = 0.026) and palpitations (8.2% vs. 37.0%, P = 0.001), along with higher serum potassium and magnesium levels (2.86 ± 0.45 mmol/L vs. 2.67 ± 0.38 mmol/L, P = 0.034; 0.65 ± 0.14 mmol/L vs. 0.58 ± 0.16 mmol/L, P = 0.031) than the older group (> 16 years). Moreover, serum potassium and magnesium levels were positively correlated and both were negatively correlated with age. Additionally, Among 170 detected SLC12A3 variants, 73 distinct variants were identified, including six novel ones. The compound heterozygous group exhibited higher serum magnesium levels compared to the heterozygous and homozygous groups (0.65 ± 0.17 mmol/L vs. 0.56 ± 0.09 mmol/L, P = 0.015; 0.65 ± 0.17 mmol/L vs. 0.51 ± 0.07 mmol/L, P < 0.001). Age at diagnosis was associated with variant types.
conclusionThe study characterized the phenotypic and genotypic features of Chinese GS patients, highlighting age and mutation genotype as key factors influencing phenotype, underscoring the importance of standardized potassium and magnesium supplementation, and expanding the known mutation spectrum with novel variants.
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