[A case of lithiasis caused by 2,8 dihydroxyadenine. Evolutive characteristics. Therapeutic problems]

We report a case of bilateral 2,8 dihydroxyadenine urolithiasis in a 25-year-old woman, born from an incestuous union between a brother and sister, who developed the first manifestations at the age of 9 years. This condition results from APRTase deficiency and an autosomal recessive inherited disorder. Diagnosis requires physical analysis of the stones and measurement of APRT activity in red cells. Treatment by lithotripsy with piezo-electric shock waves was ineffective on the left leading to eventual nephrectomy. The right lithiasis was destroyed by lithotripsy. This result would suggest variable solidity of 2,8 dihydroxyadenine stones. In this patient, an indwelling endoprosthesis was left in place for 14 months for extra-medical reasons and led to staphylococcal urinary infections, struvite lithiasis and incrustations of the catheter within the bladder. Ureteroscopy and percutaneous nephrostomy were required to remove this secondary radio-opaque stone.