Key result
In patients with Gitelman syndrome, hyperuricemia was present in 21.2% and was associated with higher BMI and lower fractional excretion of uric acid.
Why the study?
Hyperuricemia is frequently observed in Gitelman syndrome, but its risk factors and associations with the disease remain unclear.
Cohort (n=132)
No
Hyperuricemia is common in Chinese patients with Gitelman syndrome and is associated with elevated BMI and potentially more severe NCC dysfunction, rather than specific genetic variants.
Answers are grounded in this paper and cite their sources.
This hypothesis-generating data highlights hyperuricemia as a frequent complication in Gitelman syndrome; leaves.
Background Gitelman syndrome (GS) is a rare inherited salt-losing tubulopathy caused by dysfunction of the thiazide-sensitive sodium-chloride cotransporter (NCC). Hyperuricemia is frequently observed in patients with GS, yet its risk factors and associations with GS remain unclear. This study aimed to investigate the percentage, clinical characteristics, and genetic mechanisms in GS patients with hyperuricemia. Methods We reanalyzed the GS cohort at Peking Union Medical College Hospital, investigated the baseline clinical, laboratory, and genetic data of GS patients, and utilized the Illumina Human Asian Screening Array-24+v1.0 gene chip and IMPUTE2 for single nucleotide polymorphism (SNP) analysis. Results The average serum uric acid of 132 GS patients was 352.3 ± 96.9 μmol/l (5.9 ± 1.6 mg/dl), with 21.2% hyperuricemia [mean 486.1 μmol/l (8.2 mg/dl)] and two cases of gout. The GS patients with hyperuricemia had higher body mass index (BMI) (24.3 ± 3.9 vs 21.7 ± 3.5 kg/m2, P = .001), lower fractional excretion of uric acid (FEUA) (median 4.22% vs 6.17%, P < .001), and urinary calcium/creatinine ratio (0.05 vs 0.12 mmol/mmol, P = .004). In GS patients with or without hyperuricemia, the impairment of NCC function indicated by the value of increase of chloride excretion fraction (△FECl) in the hydrochlorothiazide test was median 0.49% vs 0.82% (P = .10). We focused on the SLC12A3 genotype and 33 SNPs linked to uric acid levels and found no significant genetic differences between patients with or without hyperuricemia. Conclusions Hyperuricemia is common in patients with GS in China, associated with elevated BMI and potentially more severe NCC dysfunction.
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Zhang et al. (2025) conducted a cohort in Gitelman syndrome (n=132). Hyperuricemia vs. Without hyperuricemia was evaluated on Body mass index (BMI) (p=.001). In patients with Gitelman syndrome, hyperuricemia was present in 21.2% and was associated with higher BMI and lower fractional excretion of uric acid.
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