Journal of Urological Surgery (Dec 2023)
The Association Between Sodium Citrate Cotransporter (NaDC-1) Gene Polymorphism and Urinary Citrate Excretion in Patients with Calcium-containing Kidney Stones
Abstract
Objective: To evaluate the relationship between sodium citrate cotransporter (NaDC-1) gene polymorphism and urinary citrate excretion in patients with kidney stones containing calcium. Materials and Methods: Between June 2009 and August 2011, stone materials obtained from patients treated for nephrolithiasis at the Urology Clinic were examined using X-ray diffraction, and patients with calcium-containing stones (calcium oxalate and calcium phosphate) were identified. Patients were divided into two groups based on their 24-hour urine citrate levels: (1) those with normal urine citrate levels and (2) hypocitraturia. To analyze the rs11567842 mutation in the NaDC-1 gene, their blood was collected in a Na-EDTA hemogram tube and stored at -40 °C. The genotypes of the cases were determined by analyzing the obtained genomic DNAs in real-time polymerase chain reaction. Results: Ninety-six patients with calcium-containing nephrolithiasis were eligible for this study, 40 with normal urine citrate levels and 56 with hypocitraturia. The mean 24-hour urine citrate levels in the normal- and hypo-citraturia groups were 773 mg/1.73 m2/24 hours and 152 mg/1.73 m2/24 hours, respectively. Citrate measurements revealed a statistically significant difference between the two groups (p0.05). NaDC-1 gene rs11567842 homozygous mutation (GG genotypes) was detected in 4 (10%) of normocitraturia and 4 (7%) of hypocitraturia. The normocitraturia group had a higher mutation rate than the hypocitraturia group, but this difference was insignificant (p=0.618). Conclusion: This study suggests that the NaDC-1 gene polymorphism does not cause hypocitraturia in calcium-containing kidney stones. Larger studies are needed to understand genetic disorders’ impact on low urinary citrate excretion, with patient groups and healthy controls, and a standard diet.
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