title: [2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of this misdiagnosed metabolic abnormality. The value of extracorporeal 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 oxydase. 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 in two new french families. First a 8 year 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 incluted into pyeloureteral junctions have been pulled out by bilateral surgical pyelotomy. In each case, lithiasis were radioluscent and diagnosis made by ultrasonography. The uric acid metabolism was normal and it is the infra red spectrophotometric study of stones that had recogniseed the 2,8-DHA component. In the second case, bilateral residual lithiasis have been broken by piezoelectric extracorporeal lithotrypsy with good tolerance and favorable result. The two children received permanent 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 theorical incidence of homozygotics in population (1/100,000). The common confusion with uric lithiasis is one possible explanation. So spectorophotometric study of radioluscent stones was meant to be realised when uric metabolism is not disturbed. Prevention associates alimentary diet without purins and permanent treatment by allopurinol (10 mg/kg/day in a child). Not used to date, piezo-electric extracorporeal lithotrypsy seems to take a place for treatment of initial, residual or recurrent 2,8-DHA lithiasis like for our young patient.(ABSTRACT TRUNCATED AT 250 WORDS)
authors.affiliation: Service de Chirurgie Pédiatrique, CHRU, 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*; D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007669:Kidney Calculi / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D013053:Spectrophotometry; D014463:Ultrasonography
chemical_list: C002993:2,8-dihydroxyadenine; D000225:Adenine
vernacular_title: La lithiase 2,8-dihydroxyadéninique 2 nouvelles observation pédiatriques d'un déficit métabolique méconnu. Apport de la lithotrypsie extra-corporelle.