Brunel-Guitton Catherine, Rivard Georges-Etienne, Galipeau Jacques, Alos Nathalie, Miron Marie-Claude, Therrien Roxane, Mitchell Grant, Lapierre Guy, Lambert Marie
Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, Que. H3T1C5, Canada.
Mol Genet Metab. 2009 Feb;96(2):73-6. doi: 10.1016/j.ymgme.2008.11.158. Epub 2008 Dec 10.
No consensus exists on the minimal dose of enzyme replacement therapy (ERT) effective to maintain therapeutic goals in pediatric Gaucher patients.
Evaluate the efficacy of low dosage ERT to maintain treatment goals.
Six patients had a maintenance dose of 30-35U/kg/month. All patients, with the exception of one L444P/L444P homozygote, maintained therapeutic goals.
A low maintenance dose may be adequate in most pediatric patients. L444P homozygotes may require a higher maintenance dosage.
关于维持戈谢病患儿治疗目标所需的酶替代疗法（ERT）最小剂量，目前尚无共识。
评估低剂量ERT维持治疗目标的疗效。
6例患者的维持剂量为30 - 35U/kg/月。除1例L444P/L444P纯合子外，所有患者均维持了治疗目标。
大多数儿科患者使用低维持剂量可能就足够了。L444P纯合子可能需要更高的维持剂量。
