摘要
目的 总结糖原贮积病Ⅱ型（GSDⅡ）使用重组α葡萄糖苷酶治疗的效果.方法 收集2015年10月至2016年7月在中山大学附属第一医院住院治疗的5例（青年型3例、婴儿型2例）GSDⅡ的病例资料.例1女,15月龄发病;例2男,20月龄发病;例3女,为例2的姐姐,47月龄发病;例4男,5月龄发病;例5男,1月龄发病.5例患儿分别于32、31、56、34、3月龄开始每2周予1次20 mg/kg重组人α葡萄糖苷酶治疗了19、9、4、5、5剂.对患儿的治疗效果予以观察.结果 患儿酶替代治疗前常规予地塞米松预防过敏反应,例1有1次因酶替代治疗前未使用地塞米松,出现心率快,血压高的不良反应,余输注无不良反应.所有患儿每次酶替代治疗后呼吸情况和四肢肌力都有好转,四肢肌力改善更明显,例2成功撤离呼吸机,例1、例4脱机时间逐步延长,例1行气管切开接呼吸机治疗,例4尝试改为无创呼吸机辅助通气.结论 重组α葡萄糖苷酶替代治疗安全有效,不良反应小,可明显改善GSDⅡ的肌力及呼吸功能.
Objective To evaluate the effect of enzyme replacement therapy （ERT） on glycogen storage disease type Ⅱ] （GSD Ⅱ）.Method The clinical data of three juvenile onset and two infant onset GSD Ⅱ patients were collected from First Affiliated Hospital of Sun Yat-sen University in October 2015 to July 2016.Patient 1 was female,the age of onset was 15 months.Patient 2 was male,the age of onset was 20 months.Patient 3 was female,the sister of patient 2,the age of onset was 47 months.Patient 4 was male,the age of onset was 5 months.Patient 5 was male,the age of onset was 1 month.The age at the start of ERT of the 5 patients was 32,31,56,34,and 3 months respectively and the duration of ERT was 19,9,4,5,5 doses respectively.ERT was administered at 20 mg/kg every 2 weeks.Dexamethasone was regularly given before each infusion.Result ERT was well tolerated,only one time,Patient 1 developed tachycardia and hypertension without using dexamethasone.Patient 2 underwent successfully ventilator weaning.Patient 1 underwent a tracheotomy,also needed mechanical ventilation treatment.Patient 4 noninvasive ventilation was tried.Conclusion Recombinant human alpha-glucosidase treatment was effective and well tolerated in patients with GSD Ⅱ.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2016年第11期829-833,共5页
Chinese Journal of Pediatrics
基金
2010年国家临床重点专科建设项目（2011-872）
广东省科技项目（20138021800276）
广州市科技计划科学研究专项（201510010148）
