Xanthine urolithiasis

• Published in: Saudi journal of kidney diseases and transplantation 2010-03, Vol.21 (2), p.328-331
• Main Authors: Gargah, Tahar, Lakhoua, Muhammad Rashid, Hamzawi, Murad, al-Sayyid, Afif, Labassi, Ayman
• Format: Article
• Language: English
• Subjects: Abdominal Pain - genetics; Biomarkers - urine; Biopsy; Calculi; Calculi, Urinary; Care and treatment; Case studies; Child; Child, Preschool; Diagnosis; Health aspects; Hematuria - genetics; Humans; Hydronephrosis - genetics; Male; Nephrectomy; Patient outcomes; Purine-Pyrimidine Metabolism, Inborn Errors - complications; Purine-Pyrimidine Metabolism, Inborn Errors - diagnosis; Purine-Pyrimidine Metabolism, Inborn Errors - genetics; Purine-Pyrimidine Metabolism, Inborn Errors - pathology; Purine-Pyrimidine Metabolism, Inborn Errors - urine; Pyelonephritis - genetics; Risk factors; Treatment Outcome; Urinary organs; Urography; Urolithiasis - diagnostic imaging; Urolithiasis - genetics; Urolithiasis - pathology; Urolithiasis - urine; Urologic Surgical Procedures, Male; Xanthine; Xanthine - urine; الأمراض; الحصوات; الزانثين; الفشل الكلوي; الكلى; المضاعفات
• ISSN: 1319-2442; 2320-3838

Hereditary xanthinuria type I, a defect of purine matabolism, results from a genetic deficiency of xanthine oxidase. It is an uncommon cause of stone formation in children. We report here two children with xanthine urolithiasis. The first patient was an 8-year-old boy who presented with repeated episodes of hematuria evaluated with excretory urography, which demonstrated radio­lucent pelvic stone in the right kidney, causing hydronephrosis. He had pyelolithotomy, and the extracted stone consisted of pure xanthine. Family study revealed an asymptomatic xanthinuria in younger brother. The second patient was a 5-year-old boy who had a 2-week history of abdominal pain and gross hematuria. Conventional excretory intravenous urography showed a non-functioning right kidney. Nephrectomy was performed, and histology revealed end-stage pyelonephritis. The calculi consisted of pure xanthine. In both patients, plasma and urinary concentrations of uric acid were low but xanthine and hypoxanthine concentrations were markedly elevated. Xanthine uroli­thiasis is usually a benign condition, easy to prevent or cure by appropriate alkalinization, forced hydration and restriction of dietary purines. However asymptomatic, and therefore undiagnosed, stones may invade the kidney and urinary tract, resulting in destruction of parenchyma, nephrec­tomy and renal failure.