糖原累积病Ⅱ型（Pompe病）17例临床特点和转归  

Clinical sequelae of 17 cases with glycogen storage disease type Ⅱ/Pompe disease

作　　者：张寒冰[1] 张为民 仇佳晶[1] 孟岩[3] 邱正庆[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院儿科,100730 [2]中心实验室 [3]中国医学科学院基础医学研究所北京协和医学院基础医学院医学遗传学系

出　　处：《中华儿科杂志》2012年第6期415-419,共5页Chinese Journal of Pediatrics

基　　金：“十一五”国家科技支撑计划项目（2006BA105A07）;北京市科技计划项目（D0906005040491）

摘　　要：目的总结分析国内糖原累积病Ⅱ型（Pompe病）患者的临床表现及疾病转归的特点。方法回顾性分析17例经酶学确诊的糖原累积病Ⅱ型患者临床资料，通过设计临床调查表进行电话随访，总结归纳临床和转归特点。结果17例糖原累积病Ⅱ型患者中，4例为婴儿型，生后2-6个月发病，均有肌酶升高和心脏受累，伴或不伴呼吸肌受累。4例均未进行治疗。其余13例为晚发型，发病年龄2-22岁，均有肌酶升高。其中11例以肌肉无力起病，2例表现为呼吸肌受累，2例表现为脊柱侧弯，1例表现为肌酶高伴肝功能异常。除3例曾接受呼吸机辅助治疗外，其余10例未接受相关治疗。全部患者仪-1，4-葡萄糖苷酶活性数值均低于正常人10％以下；14例行病理肌活检检测，9例提示糖原累积病Ⅱ型；10例行基因检测，6例检测到2个致病突变。成功电话随访12例，随访率70％。婴儿型4例中，3例在3岁之内死于呼吸衰竭，存活的1例目前1岁7个月。成功随访的晚发型8例中，4例于发病3-5年死亡，均死于呼吸衰竭，存活的4例中3例自觉肌肉无力症状加重，1例自住院时使用呼吸机治疗，至今病情无明显改变。12例随访者中7例死亡，总死亡率58％。结论糖原累积病Ⅱ型在临床表现上存在差异。婴儿型表现为全身性肌肉无力，心脏受累明显，病情凶险，死亡率高。晚发型以慢性进行性肌肉无力，呼吸功能不全为主。经α-1，4-葡萄糖苷酶活性测定、肌肉活检以及基因检测诊断。患者的预后与发病年龄、有无呼吸肌受累相关。Objective To analyze and summarize the characteristics of glycogen storage disease type Ⅱ （Pompe disease） patients according to the clinical description and prognosis. Method Seventeen Chinese patients diagnosed by acid alpha-glucosidase （GAA） enzyme activity test were reviewed. Clinical data tables were designed. Interviews were made via phone calls. Information was collected to reach the objective. Result Four of 17 patients diagnosed by acid alpha-glucosidase are infantile-onset, symptoms started between 2 to 6 months after birth with increased serum creatine kinase and cardiac problems, with or without respiratory concerns. Other 13 patients were later-onset cases, and their symptoms started between 2 to 22 years of age with increased serum creafine kinase. Eleven later-onset patients started with muscle weakness, 2 patients developed respiratory insufficiency, 2 patients showed seoliosis, and 1 patient expressed increased serum creatine kinase with abnormal liver function. Just 3 of the later-onset patients were treated with mechanical ventilator and adjuvant therapy, others were not. All patients＇ acid alpha- glucosidase （GAA） enzyme activity analysis showed lower than 10% of normal. Fourteen patients were tested by muscle biopsy pathology, and 9 of them progressed to glycogen storage disease type Ⅱ ; 10 patients received genetic analysis, and 6 of them had two mutations which cause the disorder. Twelve of the 17 patients were interviewed successfully. In 3 of the infant-onset patients the disease resulted in death from respiratory failure, and 1 is still alive at the age of 1 year and 7 months. In 4 of 8 later-onset patients thedisease resulted in death from respiratory failure between 3 to 5 years after onset of symptoms. Three of 4 survivers had increased muscle weakness, and 1 patient kept alive with ventilator without any changes. Seven of 12 interviewed patients died, the mortality rate was 58.3%. Conclusion Glycogen storage disease type Ⅱ （Pompe disease ） present differently i

关 键 词：糖原累积病Ⅱ型 Pompe病 临床转归 

分 类 号：R725.8[医药卫生—儿科]