BİR OLGU NEDENİYLE KLASİK KSANTİNÜRİ

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Classical Xanthinuria: A Case Report

Xanthinuria, an inherited disorder of purine metabolism, is a rare cause of urolithiasis. Our case presented withhematuria and crystalluria since 3 months of age. He had been hospitalized for the first time at 9 months of agewith anuria and renal failure. Bilateral multiple nonopaque stones had been detected and he had undergonenephrolithotomy twice since then. He was admitted to our hospital when he was 30-months-old. He was screenedfor metabolic abnormalities and the diagnosis of classical xanthinuria was established. This case is reportedbecause of it's rare occurence and of late diagnosis

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