Evaluation of rs11568476 mutation ofSLC13A2 gene in individuals with hypocitraturia and calcium-containing kidney calculi

Objective: Renal stone is third most common disease of urinary system after urinary tract infections and prostatic pathologies. The relationship between hypocitraturia and calcium stones is well documented. However, genetic ethiology is not well known. The SLC13A2 gene mutation which encodes Na+-di- and tri-carboxylate cotransporters (NaDC) regulates citrate excretion from renal tubules lead to hypocitraturia. In this prospective study we aimed at comparing 11568476 mutation of the SLC13A2 gene in hypocitraturic and normocitraturic patients with renal calcium stone disease. Material and method: We studied 38 normocitraturic and 52 hypocitraturic patients who had calcium containing renal stones. rs11568476 mutation of the SLC13A2 gene was studied by real time polimerase chain reaction method. Results: Both groups were similar according to mean age, mean weight, mean height, biochemical parameters, urine pH, density and 24-hour urinary excretion of oxalate, calcium and magnesium. In patients with positive family history of urinary stone disease, normocitraturia was significantly more prevalent than hipocitraturia (p = 0.024). Plasma uric acid level was found significantly higher in patients with hypocitraturia than in who with normocitraturia (p = 0.002). rs11568476 mutation of SLC13A2 gene was detected in none of the patients in both groups. Conclusion: In this study our results couldn't demonstrate any association of rs11568476 mutant of SLC13A2 gene which encodes NADC protein with calcium containing renal stone disease in hypositraturic pattients. Key words: Hypocitraturia; Na+-di- and tri-carboxylate cotransporters; SLC13A2 gene, rs11568476 mutation