title: Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome.
abstract: We report on a 16-day-old male with metabolic acidosis, hyperuricemia, hyperuricosuria, and nephrocalcinosis caused by Lesch-Nyhan syndrome. Activity of the hypoxanthine-guanine phosphoribosyl transferase (HPRT) enzyme in lysed erythrocytes was undetectable, and molecular DNA analysis confirmed the presence of a 4-base pair deletion at the 5' end of intervening sequence 8 in the HPRT1 gene, a change that affects a 5' splice site consensus sequence. Rasburicase, a urate oxidase enzyme, was administered on day 26 of life, with an endovenous dose of 0.20 mg/kg/d for 3 days. Plasma urate concentrations normalized (2.96 mg/dL) at 38 days of life. Kidney function was preserved in our patient. In summary, rasburicase proved to be a safe and effective treatment in a patient with Lesch-Nyhan syndrome with uric acid nephropathy in the neonatal period.
authors.affiliation: Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Roche
authors.forename: Belén
authors.initials: B
authors.lastname: Pérez-Dueñas
authors.forename: Juan Antonio
authors.initials: JA
authors.lastname: Camacho
authors.forename: Rosa J
authors.initials: RJ
authors.lastname: Torres
authors.forename: Juan G
authors.initials: JG
authors.lastname: Puig
authors.forename: Angels
authors.initials: A
authors.lastname: García-Cazorla
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D004305:Dose-Response Relationship, Drug; D017353:Gene Deletion; D006074:Gout Suppressants / Q000009:adverse effects / Q000627:therapeutic use*; D006801:Humans; D033461:Hyperuricemia / Q000188:drug therapy* / Q000209:etiology*; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D007231:Infant, Newborn; D007668:Kidney / Q000503:physiopathology; D007926:Lesch-Nyhan Syndrome / Q000150:complications* / Q000235:genetics; D008297:Male; D016896:Treatment Outcome; D014503:Urate Oxidase / Q000009:adverse effects / Q000627:therapeutic use*; D014527:Uric Acid / Q000097:blood
chemical_list: D006074:Gout Suppressants; C469709:rasburicase; D014527:Uric Acid; D014503:Urate Oxidase; D007041:Hypoxanthine Phosphoribosyltransferase