PICU收治的糖原贮积病Ⅱ型五例临床分析

Clinical analysis of five cases of glycogen storage disease type Ⅱ in PICU

目的分析糖原贮积病Ⅱ型婴儿型与晚发型的临床特点。方法回顾性分析我院PICU2013年至2014年收治的5例糖原贮积病Ⅱ型患儿的临床资料，总结分析婴儿型与晚发型的临床表现和预后。结果5例糖原贮积病Ⅱ型患儿中，3例为婴儿型，首发症状有呼吸困难、心肌肥厚、肝脏增大及骨骼肌无力，仅-葡萄糖苷酶A浓度降低，2例完善基因检测，1例框移突变合并错义突变，1例2处错义突变。3例婴儿型均出现心律失常，2例死于致死性心律失常，1例行酶替代疗法，随访存活。2例为晚发型，首发症状为呼吸困难，肌力、肌张力低下，d．葡萄糖苷酶浓度降低，2例未作基因检测。1例呼吸机辅助通气，合并多种感染，肺炎加重无法脱离呼吸机，家属放弃治疗。1例死于心律失常。结论婴儿型以心肌肥厚、肝脏增大、肌张力低下为首发症状，病情进展快，病死率高，易并发致死性心律失常；晚发型以呼吸衰竭、四肢近端肌无力为主要发病症状，易产生呼吸机依赖合并多重感染。二者均以综合治疗为主，酶替代治疗一定程度上可以改善婴儿型的临床症状。

Objective To investigate the clinical manifestations of infantile and late-onset glycogen storage disease type Ⅱ. Methods We analyzed the clinical manifestations and prognosis of infantile and late-onset glycogen storage disease type Ⅱ with a retrospective analysis of five cases admitted in PICU of Shengjing Hospital of China Medical University from 2013 to 2014. Results First symptoms of three infantile cases were dyspnea, cardiac hypertrophy, hepatomegaly, skeletal muscle weakness and low concentration of α-glucosidase A. Two cases completed gene detection. One case had frameshift mutation and missense mu- tation, and the other had two missense mutation. Three infantile cases all showed arrhythmia performance. Two cases died of fatal arrhythmia. One case received enzyme replacement therapy and survived. The main symptoms of two late-onset cases who had not get gene detection were dyspnea,low muscle strength,muscle hypotonia and low concentration of acid α-glucosidase. One case received mechanical ventilation, complicated with multiple infections, severe pneumonia and ventilator dependence, finally gave up the treatment. The other died of cardiac arrhythmia. Conclusion Infantile cases have the major symptoms of myocardial hypertrophy, hepatomegaly, low muscular tension with rapid progression, high mortality and fatal arrhythmia. Late-on- set cases have the clinical features of respiratory failure, proximal limb muscle weakness and be susceptible to ventilator dependence and multiple infections. Enzyme replacement therapy can improve the clinical symptoms of infantile cases.