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: Ana Roche, Belén Pérez-Dueñas, Juan Antonio Camacho, Rosa J Torres, Juan G Puig, Angels García-Cazorla, Rafael Artuch
• Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation (Am J Kidney Dis) Vol. 53 Issue 4 Pg. 677-80 (Apr 2009) ISSN: 1523-6838 [Electronic] United States
• PMID: 18992978 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Gout Suppressants
• rasburicase
• Uric Acid
• Urate Oxidase
• Hypoxanthine Phosphoribosyltransferase

Topics

• Dose-Response Relationship, Drug
• Gene Deletion
• Gout Suppressants (adverse effects, therapeutic use)
• Humans
• Hyperuricemia (drug therapy, etiology)
• Hypoxanthine Phosphoribosyltransferase (genetics)
• Infant, Newborn
• Kidney (physiopathology)
• Lesch-Nyhan Syndrome (complications, genetics)
• Male
• Treatment Outcome
• Urate Oxidase (adverse effects, therapeutic use)
• Uric Acid (blood)