title: [2,8-Dihydroxyadeninuria: 2.8-dihydroxyadenine crystals in urinary sediment in patients with adenine-phosphoribosyltransferase deficiency].
abstract: 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.
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000652:urine; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology; D010430:Pentosyltransferases / Q000172:deficiency*; D014514:Ureteral Calculi / Q000209:etiology; D014515:Ureteral Diseases / Q000209:etiology; D014552:Urinary Tract Infections / Q000209:etiology
chemical_list: C002993:2,8-dihydroxyadenine; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine
vernacular_title: 2,8-Dihydroxyadeninurie. 2,8-Dihydroxyadenin-Kristalle im Harnsediment bei Mangel an Adenin-Phosphoribosyltransferase.