title: [A case of 2,8-dihydroxyadenine stones with a partial deficiency of adenine phosphoribosyltransferase].
abstract: We report a case of 2, 8-dihydroxyadenine (2, 8-DHA) urolithiasis. A 39-year-old female was referred to our hospital with the complaint of right flank pain. An X-ray examination showed right hydronephrosis. On May 1986, right percutaneous nephrolithotripsy was performed. Infrared spectroanalysis revealed 2, 8-DHA and calcium phosphate mixed calculus. The adenine phosphoribosyltransferase activity in erythrocytes was partially deficient. Since the operation, 300 mg/day of allopurinol has been administered, and there have been no signs of recurrence.
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000378:metabolism; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D000328:Adult; D005260:Female; D006801:Humans; D007669:Kidney Calculi / Q000209:etiology*; D010430:Pentosyltransferases / Q000172:deficiency*
chemical_list: C002993:2,8-dihydroxyadenine; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine