摘要
目的探讨成年起病的晚发型糖原贮积病Ⅱ型(GSDⅡ)的临床特点及应用酶替代疗法(ERT)治疗的效果。方法回顾性分析1例确诊为晚发型GSDⅡ患者的病历及基因检测结果,随访ERT的效果并复习相关文献。结果患者23岁出现进行性加重肌无力表现,已需呼吸机支持治疗5年,坐位脱机自主呼吸仅能维持10 min。治疗前生化检查结果为肌酸激酶(CK)413.3 U/L,酸性α-葡糖苷酶(GAA)为0.38μmol/(L·h);肌电图提示四肢肌源性损害;双大腿磁共振成像(MRI)提示肌肉萎缩并弥漫性异常信号。肌肉活检符合糖原累积病理特征。二代测序发现GAA基因有2个变异位点。诊断GSDⅡ后予以人重组酸性α-葡糖苷酶(rhGAA)替代治疗6个月,患者肌无力症状无明显加重现象,坐位脱机自主呼吸时间延长至2 h。结论早期、足量的ERT是GSDⅡ目前唯一有效的治疗手段。
Objective To investigate the clinical characteristics of adult-onset late-onset glycogen storage disease typeⅡ(GSDⅡ)and the efficacy of enzyme replacement therapy(ERT).Methods The medical records and genetic test results of a patient with late-onset GSDⅡwere retrospectively analyzed.The effect of ERT was followed up and the related literature was reviewed.Results At 23 years old,the patient presented with progressive exacerbation of myasthenia and had required ventilator support therapy for 5 years,and sitting offline spontaneous breathing was only maintained for 10 min.The results of biochemical examination before treatment were creatine kinase(CK)413.3 U/L,acid alpha-glucosidase(GAA)0.38μmol/(L·h);electromyography suggested myogenic damage of extremities;magnetic resonance imaging(MRI)of both thighs showed muscular atrophy with diffuse abnormal signals.Muscle biopsy was consistent with pathological features of glycogen accumulation.The next generation sequencing found two mutation sites in GAA gene.After diagnosis of GSDⅡ,the patient was treated with recombinant human acid alpha-glucosidase(rhGAA)replacement therapy for 6 months,the symptom of myasthenia was not significantly aggravated,and the spontaneous breathing time of sitting weaning was prolonged to 2 h.Conclusion Early and adequate ERT is the only effective treatment for GSDⅡat present.
作者
周兆全
钟芳芳
吴承龙
娄一萍
ZHOU Zhaoquan;ZHONG Fangfang;WU Chenglong;LOU Yiping(School of Medicine,Shaoxing University,Shaoxing 312000;the First Affiliated Hospital of Shaoxing University/Shaoxing People's Hospital,Shaoxing 312000,China)
出处
《临床医学研究与实践》
2022年第34期29-32,共4页
Clinical Research and Practice
关键词
糖原贮积病Ⅱ型
晚发型
酶替代疗法
glycogen storage disease typeⅡ
late-onset
enzyme replacement therapy