Zhang Han-bing, Zhang Wei-min, Qiu Jia-jing, Meng Yan, Qiu Zheng-qing
Department of Pediatrics, Chinese Academy of Medical Sciences, Beijing , China.
Zhonghua Er Ke Za Zhi. 2012 Jun;50(6):415-9.
To analyze and summarize the characteristics of glycogen storage disease type II (Pompe disease) patients according to the clinical description and prognosis.
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.
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 creatine kinase. Eleven later-onset patients started with muscle weakness, 2 patients developed respiratory insufficiency, 2 patients showed scoliosis, 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 the disease resulted in death from respiratory failure between 3 to 5 years after onset of symptoms. Three of 4 survivors 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%.
Glycogen storage disease type II (Pompe disease) present differently in the clinic. Infant-onset Pompe disease is mainly characterized by generalized muscle weakness and obvious cardiac involvement. It's a dangerous disease, with high mortality rate. Later-onset Pompe disease is characterized by chronic proximal muscle weakness and respiratory insufficiency. GAA enzyme activity analysis, muscle biopsy and genetic analysis used to support the diagnosis of Pompe disease. Prognosis of the disease depends on age of onset and respiratory muscle involvement.
根据临床描述和预后分析总结II型糖原贮积病（庞贝病）患者的特征。
回顾17例经酸性α-葡萄糖苷酶（GAA）酶活性检测确诊的中国患者。设计临床数据表。通过电话进行访谈。收集信息以达成目标。
17例经酸性α-葡萄糖苷酶确诊的患者中，4例为婴儿型发病，症状在出生后2至6个月开始，伴有血清肌酸激酶升高和心脏问题，有或无呼吸方面问题。其他13例为晚发型病例，症状在2至22岁开始，伴有血清肌酸激酶升高。11例晚发型患者以肌无力起病，2例出现呼吸功能不全，2例有脊柱侧弯，1例血清肌酸激酶升高且肝功能异常。晚发型患者中仅3例接受了机械通气及辅助治疗，其他未接受。所有患者的酸性α-葡萄糖苷酶（GAA）酶活性分析均显示低于正常的10%。14例患者进行了肌肉活检病理检查，其中9例进展为II型糖原贮积病；10例患者接受了基因分析，其中6例有两个导致该疾病的突变。17例患者中有12例成功接受访谈。3例婴儿型发病患者因呼吸衰竭死亡，1例在1岁7个月时仍存活。8例晚发型患者中有4例在症状出现后3至5年因呼吸衰竭死亡。4例幸存者中有3例肌无力加重，1例靠呼吸机维持生命且无变化。12例接受访谈的患者中有7例死亡，死亡率为58.3%。
II型糖原贮积病（庞贝病）在临床上表现各异。婴儿型庞贝病主要以全身肌无力和明显的心脏受累为特征。这是一种危险的疾病，死亡率高。晚发型庞贝病以慢性近端肌无力和呼吸功能不全为特征。GAA酶活性分析、肌肉活检和基因分析有助于支持庞贝病的诊断。该疾病的预后取决于发病年龄和呼吸肌受累情况。
