[2,8-dihydoroxyadenine (DHA) urolithiasis: a case report].

We report a case of 2,8-dihydroxyadenine (DHA) urolithiasis in a 28-year old female. She was admitted to our hospital complaining of a sudden pain in the left lumbar region. Abdominal X-ray (kidney-ureter-bladder; KUB) and computed tomography (CT) demonstrated a radiolucent left ureteral (8 x 6 mm2) and a renal (15 x 10 mm2) stone. In the repetitive procedure of transurethral ureterolithothripsy (TUL) and extracorporeal shock wave lithotripsy (ESWL), the stones had been removed successfully. The spectrophotometric analysis of the stone fragments revealed an absorption spectrum for 2,8-DHA. Adenine phosphoribosyltransferase (APRT) enzyme activity was lowered to 0.8 nmol/hr/mg protein. Thus, we diagnosed the illness as 2,8-DHA urolithiasis originating from APRT deficiency. A molecular analysis of the APRT gene by the polymerase chain reaction (PCR) method revealed the genotype to be APRT*J/APRT*Q0.