[2,8-Dihydroxyadeninuria: 2.8-dihydroxyadenine crystals in urinary sediment in patients with adenine-phosphoribosyltransferase deficiency].

A girl had frequent ureteric infections from the age of three years onwards, passed 2.8-dihydroxyadenine ureteric stones and was in renal failure. At six years of age she was without symptoms, but even during this stage characteristic round crystals of 2,8-dihydroxyadenine were found in the urinary sediment. Activity of adenine-phosphoribosyltransferase (A-PRTase) in red blood cells was markedly diminished to 4.5% of normal values. Crystal excretion was inhibited by allopurinol. These findings suggest that it may be possible to detect cases of considerable A-PRTase deficiency and thus prevent the development of stones and renal insufficiency.