title: [2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of an unknown metabolic deficit. The use of extracorporal lithotripsy].
abstract: Inherited adenine phosphoribosyltransferase (APRT) has a recessive transmission. When it is very important, adenine can't be restored into nucleic acids pool and will changed into 2,8-dihydroxyadenine (2,8-DHA) by xanthine oxidase. To date in all countries but Japan, 2,8-DHA urolithiasis is observed only into homozygotic subjects with complete APRT deficiency Commonly, its onset is observed in childhood often dramatically. The authors report two new pediatric cases into new french families. First a 8 years old boy with spontaneous elimination of two lithiasis after right lumbar pain. Secondly an infant (nineteen months) who has presented an acute renal failure with anuria. Bilateral lithiasis included into pyelourectal junctions have been pulled out by bilateral surgical pyelotomy. In each case, lithiasis were radiolucent and diagnosis made by ultrasonography. The uric acid metabolism was normal and it is the infra red spectrophotometric study of stones that had recognised the 2,8-DHA component. In the second case, bilateral residual lithiasis have been broken by piezoelectric extra-corporeal lithotripsy with good tolerance and favorable result. The two children received preventive treatment. After 36 and 19 months they have no recurrence. In the literature, the frequency of 2,8-DHA lithiasis is very more low than the theoretical of homozygotics in population (1/100,000). The common confusion with uric lithiasis is one possible explanation. So spectrophotometric study of radiolucent stones was meant to be realised when uric metabolism is not disturbed.(ABSTRACT TRUNCATED AT 250 WORDS)
authors.affiliation: Service de Chirurgie Pédiatrique, Angers.
authors.forename: L
authors.initials: L
authors.lastname: Coupris
authors.forename: G
authors.initials: G
authors.lastname: Champion
authors.forename: C
authors.initials: C
authors.lastname: Duverne
authors.forename: F
authors.initials: F
authors.lastname: Varlet
authors.forename: A
authors.initials: A
authors.lastname: Ratajczak
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives / Q000032:analysis / Q000378:metabolism*; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D002648:Child; D006801:Humans; D007223:Infant; D008096:Lithotripsy; D008297:Male; D014545:Urinary Calculi / Q000032:analysis / Q000209:etiology / Q000628:therapy*
chemical_list: C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine
vernacular_title: La lithiase 2,8-dihydroxyadéninique. 2 nouvelles observations pédiatriques d'un déficit métabolique méconnu. Apport de la lithotrypsie extra-corporelle.