晚发型蓬佩病的酶治疗随访及相关文献复习  

Effect observation and literature review of enzyme replacement therapy in late-onset Pompe disease

作　　者：曾燕华 吴昭英[2] 李红芳[2] 邹慧敏 陈芸[2] 郝延磊[2] Zeng Yanhua;Wu Zhaoying;Li Hongfang;Zou Huimin;Chen Yun;Hao Yanlei(College of Clinical Medicine,Jining Medical University,Jining,Shandong 272000,China;Department of Neurology,the Affiliated Hospital of Jining Medical University,Jining,Shandong 272000,China)

机构地区：[1]济宁医学院临床医学院,272000 [2]济宁医学院附属医院神经内科,272000

出　　处：《中华神经科杂志》2021年第7期677-685,共9页Chinese Journal of Neurology

基　　金：国家自然科学基金(81771360);山东省中医药科技发展计划(2019-0489)。

摘　　要：目的总结分析酶治疗对晚发型蓬佩病患者的疗效及安全性,为晚发型蓬佩病患者的治疗及预后提供参考。方法总结济宁医学院附属医院于2019年5月13日收治的1例确诊的晚发型蓬佩病患者的临床特点,观察其对α-葡糖苷酶(GAA)治疗的疗效。同时检索有关酶治疗晚发型蓬佩病文献,最终纳入21篇文献910例晚发型蓬佩病患者进行分析。结果患者16岁后逐渐出现肌无力的表现,GAA活力为0,肌电图提示双下肢肌源性损害,二代测序发现GAA基因的复合杂合突变,肌肉活组织检查提示空泡样特征性改变。患者诊断蓬佩病8年后给予酶治疗18.5个月,共治疗20次,肌无力症状前期有改善,且未出现不良反应。对纳入的行GAA治疗的910例晚发型蓬佩病患者进行分析,大部分患者在使用GAA治疗后,行走能力和(或)呼吸功能改善或稳定。结论酶治疗可以延缓大部分晚发型蓬佩病患者的病情进展,提高生活质量,且耐受性良好;在晚期重症患者中,即使在发病多年后行酶治疗,依然有显著疗效。Objective To analyze the efficacy and safety of enzyme therapy in late-onset Pompe disease(LOPD)patients,so as to provide reference for the treatment and prognosis of LOPD.Methods The effect ofα-glucosidase(GAA)on a patient diagnosed with LOPD in the Affiliated Hospital of Jining Medical University was observed and analyzed.Besides,literature related to enzyme therapy in LOPD patients were searched in PubMed,Web of Science,Medline databases.Twenty-one studies containing clinical data from 910 LOPD patients related to enzyme therapy were finally included for analysis.Results The patient developed muscle weakness since he was 16 years old.The GAA activity in peripheral blood was 0.Electromyography suggested myogenic lesions in both lower extremities.Compound heterozygous mutations of GAA gene were found by next-generation sequencing.Muscle biopsy revealed characteristic vacuolar changes.After eight years of diagnosis,the patient was given enzyme therapy for 18.5 months,20 times in total.The symptoms of muscle weakness were slightly improved in the early stages of treatment without obvious adverse reactions.Most of the 910 LOPD patients were stabilized or had improved muscular and(or)respiratory function following treatment with GAA.Conclusion GAA treatment is effective and well tolerated.In patients with advanced severe LOPD,enzyme replacement therapy remains effective even years after onset.

关 键 词：糖原贮积病Ⅱ型 酶替代疗法 人重组酸性α-葡糖苷酶 

分 类 号：R596.1[医药卫生—内科学]