title: [Two cases of 2.8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase].
abstract: We report two cases of 2.8-dihydroxyadenine stones due to partial deficiency of adenine phosphoribosyltransferase. The first patient is a 41-year-old female. Radiologic examination revealed left radiolucent renal stones and contracted kidney. Left nephrectomy was performed. Infrared spectrometric analysis of the stones revealed 2.8-dihydroxyadenine calculi. The adenine phosphoribosyltransferase activity in lymphocyte (T cell) was 19.5% of the control level. After the operation, the patient was given 300 mg/day of alloprinol. There have been no signs of recurrence. The second patient was a 52-year-old male. Radiologic examination revealed radiolucent stones of the right kidney and the urine bladder. Percutaneous nephrolithotomy and cystolithotripsy were performed. Infrared spectrometric analysis of the stones revealed 2.8-dihydroxyadenine calculi. The adenine phosphoribosyltransferase activity in the lymphocytes (T cell) was 21% of the control level. After the operation the patient was given 200 mg/day of alloprinol and put on a low purine diet. There have been no signs of recurrence.
authors.affiliation: Department of Urology, Kansai Medical University.
authors.forename: O
authors.initials: O
authors.lastname: Osawa
authors.forename: T
authors.initials: T
authors.lastname: Ohara
authors.forename: Y
authors.initials: Y
authors.lastname: Komatz
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000032:analysis; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D000328:Adult; D005260:Female; D006801:Humans; D007669:Kidney Calculi / Q000201:enzymology / Q000235:genetics / Q000601:surgery; D008096:Lithotripsy; D008297:Male; D008875:Middle Aged; D009392:Nephrectomy; D001744:Urinary Bladder Calculi / Q000201:enzymology / Q000235:genetics / Q000628:therapy; D014545:Urinary Calculi / Q000737:chemistry / Q000201:enzymology* / Q000235:genetics / Q000628:therapy
chemical_list: C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine