Abstract: Objective  To evaluate the effect of Myozyme on one ventilator dependent patient with late-onset glycogen storage disease typeⅡ (GSDⅡ).  Methods  Myozyme infusion was administered based on manufacturer's recommendations at 20 mg/kg every 2 to 4 weeks, beginning at actual body weight, and was continuously treated for 6 times. No premedication was performed except 5 mg dexamethasone was administered at the first use of Myozyme. Clinical assessment was completed every day and was lasted for 16 months including motor function, the time free of ventilation, and the change of respiration parameters.  Results  Myozyme was well tolerated without adverse reactions. Pain on shoulder began to alleviate the next day after taking Myozyme. With the prolonged time and increased number of taking drugs, the time free of ventilation and doing in-situ stepping prolonged, and the speed of stepping in-situ also increased. Besides, the strength of lifting the upper limbs increased, and both the time and speed of walking free of ventilation prolonged. The maximus curative effect occured at the 7th month (3 months after drug withdrawal) after treatment and returned to pre-treatment levels at the 8th month (4 months after drug withdrawal). The pain on shoulder was the first symptom that got improved, and the fastest symptom that returned to baseline.  Conclusions  Myozyme has positive effect on ventilated patients with late-onset glycogen storage disease type Ⅱ.

Key words: Alpha-glucosidases, Glycogen storage disease type Ⅱ, Ventilators, mechanical

摘要： 目的 观察Myozyme 对依赖呼吸机辅助通气的晚期晚发型糖原贮积病Ⅱ型患者的治疗效果。方法 参照药品说明书要求，对1 例晚发型糖原贮积病Ⅱ型患者进行Myozyme 治疗，剂量20 mg/kg（1次/2 ~ 4周），连续治疗6次，末次给药距首次给药间隔4 个月；首次给药前须经静脉注射地塞米松5 mg预处理。随访16 个月，记录每日运动功能、脱机时间和呼吸机参数变化。结果 患者对Myozyme 耐受良好，治疗期间未发生药物不良反应。首次给药第2 天肩部压痛感即减轻，随着治疗时间的延长和给药次数的增加，脱机时间延长，原地踏步速度增快和时间延长、双上肢上举力量增加、自主呼吸下行走距离增加和时间延长。疗效评价显示，以治疗7 个月时（停药后3 个月）疗效最佳，至8 个月时（停药后4 个月）降至治疗前水平；肩部压痛感最先改善，也最快回复至治疗前水平。结论 Myozyme 对依赖呼吸机辅助通气的晚发型糖原贮积病Ⅱ型患者有一定疗效。

关键词: α葡糖苷酶类, 糖原贮积病Ⅱ型, 通气机, 机械