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2,8-Dihydroxyadeninuria is a rare purine metabolic disorder that has been reported to have caused urolithiasis in 14 cases, mostly children. Excretion of the hydroxylated metabolites of adenine results from a deficiency of adenine phosphoribosyltransferase. The insoluble calculi have a similar chemical structure to uric acid and frequently are misdiagnosed as uric acid calculi. Management differs from that of uric acid urolithiasis. We report on an adult with 2,8-dihydroxyadenine urolithiasis in the United States.
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