title: 2,8-Dihydroxyadenine urolithiasis: report of an adult case in the United States.
abstract: 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.
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000032:analysis; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D005260:Female; D006801:Humans; D008875:Middle Aged; D010430:Pentosyltransferases / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications / Q000453:epidemiology*; D014481:United States; D014545:Urinary Calculi / Q000032:analysis* / Q000209:etiology
chemical_list: C002993:2,8-dihydroxyadenine; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine