糖原贮积病Ⅱ型酶替代治疗1例报告

摘要

Objective To study the clinical characteristics and the effect of enzyme replacement therapy for late-onset glycogen storage disease typeⅡ(GSDⅡ). Methods The clinical, laboratory data and the result of genetic testing were retrospectively analyzed in a GSDⅡchild, the effect of enzyme replacement therapy was followed up and the relevant literature was reviewed. Results The patient had motor regression after 1 year old, the serum creatine kinase level is from 675 to 1286 U/L. The EMG test showed myopathic change, acid alpha-glucosidase activity is 12.0 nmol/(g·min), next generation sequencing of genetic muscle diseases panel found the GAA compound heterozygous mutations, both were tiny variations, and muscle biopsies showed the typical pathological features of GSD. The patient was given human recombinant of alpha glucoside enzyme 20 mg per kilogram of body weight, once every other week for 1 year. The weakness of the patient’s muscle strength had no obvious aggravation. Conclusions Early and adequate enzyme replacement therapy is the only possible treatment for GSDⅡ.%目的：探讨晚发型糖原贮积病Ⅱ型（GSDⅡ）的临床特点及应用酶替代治疗的效果。方法回顾性分析1例确诊为GSDⅡ患儿的临床、实验室资料及基因检测结果，随访酶替代治疗效果并复习相关文献。结果患儿1岁以后逐渐出现肌无力的表现。肌酸激酶675~1286 U/L，α-葡糖苷酶酶活力为12.0 nmol/（g·min）；肌电图提示双下肢肌源性损害；二代测序检测发现GAA基因的复合杂合突变，均为微小变异；肌肉活检符合糖原累积病理特征。诊断GSDⅡ后给予人重组α-葡糖苷酶20 mg/kg，缓慢静脉滴注，每2周1次治疗1年，肌无力症状无明显加重。结论早期、足量的酶替代治疗是GSDⅡ唯一可能的治疗手段。