| Title | Efficacy of Rasburicase in Hyperuricemia Secondary to Lesch-Nyhan Syndrome. | | Author(s) | Roche A, Pérez-Dueñas B, Camacho JA, Torres RJ, Puig JG, García-Cazorla A, Artuch R | | Institution | Department of Neurology, Hospital Sant Joan de Déu; Barcelona, Spain. | | Source | Am J Kidney Dis 2008 Nov 5. | | 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. | | Language | ENG | | Pub Type(s) | JOURNAL ARTICLE
| | PubMed ID | 18992978 |
|
