Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome.
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.
Roche
Ana
A
Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
Pérez-Dueñas
Belén
B
Camacho
Juan Antonio
JA
Torres
Rosa J
RJ
Puig
Juan G
JG
García-Cazorla
Angels
A
Artuch
Rafael
R
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
D006074:Gout Suppressants; C469709:rasburicase; D014527:Uric Acid; D014503:Urate Oxidase; D007041:Hypoxanthine Phosphoribosyltransferase