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Case report demonstrates allopurinol prevents recurrent 2,8-dihydroxyadenine bladder stones in a child with adenine phosphoribosyltransferase deficiency, highlighting the benefit of early therapy.
A BSTRACT Adenine phosphoribosyltransferase deficiency is a rare cause of pediatric urolithiasis due to 2,8-dihydroxyadenine (DHA) crystal formation. We report a child with recurrent DHA bladder calculi diagnosed by stone analysis and genetic testing. Early recognition and treatment with allopurinol prevented recurrence and renal dysfunction.
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Kumar et al. (2026) studied this question.
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