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Pediatric urolithiasis: metabolic risk factors and follow-up results in a Turkish region with endemic stone disease.

[cystinuria]

The goal of this study was to investigate the metabolic etiology, clinical findings and medical treatment of children with urolithiasis in an endemic region of Turkey. We retrospectively analyzed the medical records of 742 (437 males, 305 females) children with urolithiasis. Physical examination results, serum biochemistry and urine metabolic evaluation, including urinary citrate, oxalate, calcium, uric acid, cystine and magnesium levels were recorded. We obtained follow-up records in 316 patients to evaluate the association between stone recurrence and metabolic risk factors. The mean age at diagnosis was 2.6 ± 3.4 (0.1-17.0) years. Male-to-female ratio was 1.4:1. A family history of stone disease was found in 76.5 % of patients and 41 % of parents had consanguineous marriage. The most common presenting symptoms were urinary tract infection (UTI, 23.9 %) and hematuria (23.6 %). Metabolic abnormalities were found in 588 (79.2 %) patients, including hypercalciuria in 31.5 %, hypocitraturia in 24.2 %, hyperoxaluria in 11.4 %, hyperuricosuria in 9.1 %, hypomagnesuria in 3.9 %, and cystinuria in 3.1 % of patients. The frequency of hyperoxaluria and hypocitraturia were significantly higher in patients with new stone formation. Follow-up records of 316 (42.6 %) patients (192 males, 124 females) were available. Urolithiasis was shown in 135 (42.7 %) of the patients on control ultrasonography, and 61.5 % of these patients had a stone size 3 mm. Hyperoxaluria and cystinuria were significantly higher in patients with stone persistence. The main goal of management for children with urolithiasis should be identification of risk factors.