Department of Paediatrics, Paediatric Metabolic Unit, Addenbrooke's Hospital, Cambridge, UK.
Acta Paediatr. 2011 Apr;100(4):605-11. doi: 10.1111/j.1651-2227.2010.02101.x. Epub 2011 Jan 12.
To evaluate the safety and explore the efficacy of enzyme replacement therapy (ERT) for Fabry disease with agalsidase alfa in young children enrolled in the Fabry Outcome Survey (FOS).
This retrospective chart review identified eight children (mean age= 5.0±1.6 [mean ±SD]) in FOS who began treatment with agalsidase alfa (0.2 mg/kg, i.v., every other week) when <7 years old. Vital signs and adverse events were monitored throughout the study period. Glomerular filtration rate (GFR) was estimated, and left ventricular mass indexed to height(2.7) (LVMi) was assessed with echocardiography. Patients received 1.2-6.7 years of treatment (mean=4.2 years).
Infusion reactions occurred in three patients and were of mild or moderate severity. IgG antibodies to agalsidase alfa were found in one patient who experienced two mild and one moderate infusion reactions. Mean GFR was within the normal range at baseline and remained normal. LVMi was above the 75th percentile of age-matched children in 5 of 6 patients evaluated at baseline. Only two patients exceeded this threshold at their last assessment.
Long-term observation will be needed to determine whether early initiation of ERT will prevent major organ dysfunction in these patients.
评估酶替代疗法（ERT）用阿加糖酶α治疗法布雷病的安全性，并探索其疗效，该研究纳入了 Fabry 结局研究（FOS）中的接受治疗的幼儿患者。
本回顾性图表研究纳入了 FOS 中 8 名（平均年龄=5.0±1.6 [均值±标准差]）在<7 岁时开始接受阿加糖酶α（0.2 mg/kg，静脉注射，每两周一次）治疗的儿童患者。研究期间监测生命体征和不良事件。通过超声心动图评估肾小球滤过率（GFR）和左心室质量指数（LVMi）。患者接受了 1.2-6.7 年的治疗（平均 4.2 年）。
3 名患者出现输注反应，其严重程度为轻度或中度。1 名出现 2 次轻度和 1 次中度输注反应的患者产生了针对阿加糖酶α的 IgG 抗体。基线时，平均 GFR 处于正常范围内，且一直保持正常。在基线时进行评估的 6 名患者中有 5 名的 LVMi 高于同龄儿童的第 75 百分位数。只有 2 名患者在最后一次评估时超过了这一阈值。
需要长期观察才能确定早期开始 ERT 是否会预防这些患者的主要器官功能障碍。
