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.