Rare Diseases Symptoms Automatic Extraction

Clinical characteristics and metabolic abnormalities in preschool-age children with urolithiasis in southeast Anatolia.

[cystinuria]

Data on urolithiasis in preschool-age children are limited. The aim of this study was to investigate the metabolic etiology and clinical findings of preschool-age children with urolithiasis.The medical records of 143 preschool-age children (81 boys, 62 girls, aged 2-6 years) with urolithiasis were retrospectively analyzed. Results of physical examination, serum biochemistry, and urine metabolic evaluation (including urinary citrate, oxalate, calcium, uric acid, cystine, and magnesium) were recorded.The mean age at diagnosis was 3.7 ± 1.3 years. A family history of stone disease was found in 79.7% of patients, and 37% of parents had consanguineous marriages. The most common presenting symptoms were hematuria (33%) and urinary tract infection (UTI; 29%). Metabolic abnormalities were found in 119 (83.2%) patients, including hyperuricosuria in 24.5%, hypocitraturia in 23.8%, hyperoxaluria in 21.7%, hypercalciuria in 21.0%, cystinuria in 7.7%, and hypomagnesuria in 1.4%. Multiple metabolic abnormalities were found in 24 (16.8%) patients. Results of 28 stone analyses revealed calcium oxalate or phosphate, cystine, and uric acid in 15, nine, and four of the patients, respectively. (99m)Technetium-dimercaptosuccinic acid renal scintigraphy revealed that 27.8% of the children with UTI had renal parenchymal scarring, with only four of them having vesicoureteral reflux.The most frequent metabolic abnormalities in preschool-age children with urolithiasis were hyperuricosuria and hypocitraturia. A comprehensive investigation of stone disease in children presenting with hematuria and UTI is important to prevent the development of renal parenchymal scarring.