【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。更多还原

【Abstract】 ObjectiveTo evaluate the effect of Myozyme on one ventilator dependent patient withlate-onset glycogen storage disease typeⅡ(GSDⅡ).MethodsMyozyme infusion was administered basedon manufacturer’s recommendations at 20 mg/kg every 2 to 4 weeks, beginning at actual body weight, andwas continuously treated for 6 times. No premedication was performed except 5 mg dexamethasone wasadministered at the first use of Myozyme. Clinical assessment was completed every day and was lasted for1R6e smulotnsths including motor function, the time free of ventilation, and the change of respiration parameters.Myozyme was well tolerated without adverse reactions. Pain on shoulder began to alleviate thenext day after taking Myozyme. With the prolonged time and increased number of taking drugs, the timefree 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 ofventilation prolonged. The maximus curative effect occured at the 7th month(3 months after drugwithdrawal) after treatment and returned to pre-treatment levels at the 8th month(4 months after drugwithdrawal). The pain on shoulder was the first symptom that got improved, and the fastest symptom thatreturned to baseline.ConclusionsMyozyme has positive effect on ventilated patients with late-onsetglycogen storage disease type Ⅱ.更多还原