[A case of 2,8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase].
A 37-year old female was admitted with a complaint of gross hematuria. Intravenous pyelography and retrograde pyelography showed right non-functioning kidney with a radiolucent stone in the ureter. Computerized tomographic scan revealed right hydronephrosis and ureteral stone. Ureterolithotomy was performed. Infrared spectrometric analysis of the stone revealed a 2,8-dihydroxyadenine calculus. The adenine phosphoribosyltransferase activity in red blood cells was partially deficient. After the operation the patient has been given 100 mg/day of allopurinol and is on a low purine diet. There have been no signs of recurrence.
Kitami
K
K
Department of Urology, Yamato City Hospital.
Kinoshita
Y
Y
Hosaka
M
M
D000225:Adenine / Q000031:analogs & derivatives* / Q000032:analysis; D000228:Adenine Phosphoribosyltransferase / Q000097:blood / Q000172:deficiency*; D000328:Adult; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007564:Japan; D010430:Pentosyltransferases / Q000172:deficiency*; D014514:Ureteral Calculi / Q000032:analysis / Q000201:enzymology*
C002993:2,8-dihydroxyadenine; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine