Myozyme对一例依赖呼吸机辅助通气的晚发型糖原贮积病Ⅱ型患者疗效研究  

Clinical efficacy of Myozyme on one ventilator dependent patient with late-onset glycogen storage disease typeⅡ

作　　者：杨娟[1] 冯伟勋 操基清[3] 王艳云[4] 李亚勤[3] 黄石标 罗燕君 刘焯霖[3] 孙毅明[6] 刘振华[1] 张成[3] 

机构地区：[1]南方医科大学珠江医院神经内科,广州510282 [2]广东省清远市中医院消化内科,511500 [3]中山大学附属第一医院神经科,广州510080 [4]华南理工大学校医院内科,广州510640 [5]广东省清远市中医院重症医学科,511500 [6]中山大学附属第一医院保健科,广州510080

出　　处：《中国现代神经疾病杂志》2014年第5期411-415,共5页Chinese Journal of Contemporary Neurology and Neurosurgery

基　　金：国家自然科学基金-广东省联合基金重点资助项目(项目编号:U1032004);国家自然科学基金资助项目(项目编号:30870851);国家自然科学基金资助项目(项目编号:81271401);国家科技支撑计划项目(项目编号:2012BAI09B04);国家科技重大专项课题-重大新药创制(项目编号:2011ZX09307-001);广东省科技计划项目(项目编号:2011A030400006);广东省人口和计划生育委员会科技项目(项目编号:2009208);广东省人口和计划生育委员会重点项目(项目编号:2010102)~~

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。Objective To evaluate the effect of Myozyme on one ventilator dependent patient with late-onset glycogen storage disease type Ⅱ （GSD Ⅱ）. 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.

关 键 词：α葡糖苷酶类 糖原贮积病Ⅱ型 通气机 机械 

分 类 号：R589.1[医药卫生—内分泌]