title: [Hereditary deficiency in adenine phosphoribosyltransferase: a metabolic cause of urinary lithiasis in children (author's transl)].
abstract: Complete lack of adenine phosphoribosyltransferase (APRT) is a not uncommon cause of urinary lithiasis in young children. The calculi are made up of a very poorly soluble substance, 2,8-dihydroxyadenine, which results from the oxidation of adenine by xanthinoxidase. A study of the 7 cases of APRT deficiency hitherto published (including 5 cases with lithiasis) shows that the diagnosis is rarely made, since the conventional methods of urinary stone analysis are unable to distinguish dihydroxyadenine from uric acid. This form of lithiasis can be prevented by inhibiting xanthinoxidase with allopurinol. The remarkable efficacy of this treatment and the frequent severity of the disease should raise the possibility of 2,8-dihydroxyadenine lithiasis in very case of alleged uric acid lithiasis in young children.
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives / Q000378:metabolism; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D000293:Adolescent; D000493:Allopurinol / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D008297:Male; D010430:Pentosyltransferases / Q000172:deficiency*; D014545:Urinary Calculi / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics; D014969:Xanthine Oxidase / Q000037:antagonists & inhibitors
chemical_list: C002993:2,8-dihydroxyadenine; D000493:Allopurinol; D014969:Xanthine Oxidase; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine
vernacular_title: Lithiase urinaire de l'enfant. Possibilité d'un déficit héréditaire en adénine phosphoribosyltransférase.