[A Case Report of 2,8-Dihydroxyadenine Stone].
Here we report a case of a 2,8-dihydroxyadenine (2,8-DHA) stone. A 48-year-old woman arrived at our hospital with left flank pain. She was diagnosed with a left ureteral stone. Extracorporeal shock wave lithotripsy (ESWL) was tried, but the left ureteral stone was radiolucent and ESWL was not effective. Transurethral ureterolithotripsy (TUL) was successful. An analysis of the stone revealed 2,8-DHA. A 2,8-DHA stone is caused by adenine phosphoribosyltransferase (APRT) deficiency. By genetic tests, she was diagnosed with APRT deficiency.
The Department of Urology, Niigata Rosai Hospital.
Shunsuke
S
Yamaguchi
The Department of Urology, Niigata Rosai Hospital.
Tomomi
T
Haba
The Department of Urology, Niigata Rosai Hospital.
Hiroshi
H
Koike
D000225:Adenine / Q000031:analogs & derivatives*; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications; D008875:Middle Aged; D013055:Spectrophotometry, Infrared; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014514:Ureteral Calculi / Q000209:etiology / Q000628:therapy*; D052878:Urolithiasis / Q000150:complications
C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine