[A Case Report of 2,8-Dihydroxyadenine Stone].

Autor: Yamaguchi S; The Department of Urology, Niigata Rosai Hospital., Haba T; The Department of Urology, Niigata Rosai Hospital., Koike H; The Department of Urology, Niigata Rosai Hospital.
Jazyk: japonština
Zdroj: Hinyokika kiyo. Acta urologica Japonica [Hinyokika Kiyo] 2015 Jul; Vol. 61 (7), pp. 279-83.
Abstrakt: 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.
Databáze: MEDLINE