A CASE OF 2,8-DIHYDROXADENINE UROLITHIASI S - OUTCOME AND THERAPY

We report a case of bilateral 2,8 dihydroxyadenine urolithiasis in a 2 5-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 recess ive inherited disorder. Diagnosis requires physical analysis of the st ones and measurement of APRT activity in red cells. Treatment by litho tripsy with piezo-electric shock waves was ineffective on the left lea ding to eventual nephrectomy. The right Lithiasis was destroyed by lit hotripsy. This result would suggest variable solidity of 2,8 dihydroxy adenine stones. In this patient, an indwelling endoprosthesis was left in place for 14 months for extra-medical reasons and led to staphyloc occal urinary infections, struvite lithiasis and incrustations of the catheter within the Madder. Ureteroscopy and percutaneous nephrostomy were required to remove this secondary radio-opaque stone.