title: 2,8-Dihydroxyadenine urolithiasis: report of a case in a woman in the United States.
abstract: Disorders of purine metabolism are well recognized clinical entities in modern medical practice. However, there are lesser known aberrations of purine and pyrimidine metabolism that can manifest as disease states. Deficiency of the enzyme adenine phosphoribosyltransferase is an autosomal recessive inherited disorder resulting in 2,8-dihydroxyadenuria, and possible urolithiasis and renal insufficiency. A woman with a pure 2,8-dihydroxyadenine ureteral calculus is reported, who represents the third reported case in the United States. Stones comprised of 2,8-dihydroxyadenine are difficult to distinguish from uric acid clinically, making sophisticated crystallographic analysis essential for accurate diagnosis. Treatment differs from that appropriate for uric acid lithiasis due to the limited solubility of 2,8-dihydroxyadenine at pH levels of less than 9. Prevention requires purine restriction and allopurinol.
authors.affiliation: Department of Urology, Rockville General Hospital, Connecticut.
authors.forename: A E
authors.initials: AE
authors.lastname: Lamontagne
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000652:urine; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency; D000328:Adult; D005260:Female; D006801:Humans; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000453:epidemiology; D014481:United States; D014514:Ureteral Calculi / Q000032:analysis*
chemical_list: C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine