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 医药卫生

36例DMD/BMD型进行性肌营养不良患儿临床分析

发布时间:2019-11-08 点击: 来源:医学争鸣
探讨Duchenne/Becker型进行性肌营养不良(DMD/BMD)的临床特点及肌酶、肌电图、肌肉活检的诊断价值。方法 对36例经dystrophin蛋白检测确诊的DMD/BMD患儿的临床特征及实验室检查资料进行分析。结果36例患儿平均年龄8.1岁,平均发病年龄4.2岁,16.7%(6例)患儿有家族史。36例患儿均有典型的临床症状和体征,肌酶升高以肌酸磷酸激酶(CPK)升高为主,≤4岁年龄组CPK值高于>4岁组。所有患儿肌肉活检均有肌纤维变性和坏死,其中22.2%(8例)的患儿伴有炎性细胞浸润。存在肌源性损害的同时,8.3%(3例)的患儿肌电图亦有神经源性损害。结论 血清肌酶、肌电图及肌活检是DMD/BMD重要的辅助诊断指标,对于肌电图有神经源性损害和肌活检病理检查有炎性细胞浸润者,应进行基因检测和(或)dystrophin蛋白检测。
关键词:Duchenne/Becker型肌营养不良; 肌酶; 肌电图; 肌肉活检
AbstractObjectives To explore the clinical characteristics of the children with Duchenne /Becker muscular dystrophy and the diagnostic value of creatase,electromyogram and muscle biopsy.Methods The clinical and laboratory data  of all 36 children with  Duchenne/Becker muscular dystrophy diagnosed by dystrophin detection were analyzed retrospectively.Results The mean age and the mean onset age of the 36 children were 8.1 years old and 4.2 years old, respectively, and of that 16.7%(6 cases)had positive family history.All patients presented typical signs and symptoms of the disease.Level of creatine phosphokinase in the group of 4 years old or less was higher than the group of more than 4 years old..All muscular biopsy results showed muscular degeneration and necrosis,of which 22.2%(8 cases)accompanied with inflammatory cell infiltration.Electromyogram showed muscle damage in all patients and 8.3%(3 cases)of them also had nervous lesion.Conclusions Creatase,electromyogram and muscle biopsy are important supplementary diagnostic methods.For the patients with neuropathy in electromyogram and inflammatory cell infiltrate in biopsy, gene detection and(or) dystrophin detection should be performed.
Keywords:Duchenne/Becker muscular dystrophy; creatase; electromyogram; muscle biopsy
进行性肌营养不良(progressive muscular dystrophy,PMD)是一组原发于肌肉组织的遗传性病变,主要表现为进行性加重的肌肉萎缩和无力。目前对PMD的诊断多依靠临床表现、家族史、肌酶、肌电图及肌肉病理学检查,但其肌酶、肌电图及肌肉病理学检查有时具有不典型性[1]。研究表明,Duchenne型肌营养不良(duchenne muscular dystrophy,DMD)与Becker型肌营养不良(becker muscular dystrophy,BMD)基因编码dystrophin蛋白缺失是导致该病的主要原因,dystrophin蛋白检测成为PMD诊断的重要方法。现对我院经dystrophin蛋白检测确诊的36例PMD患儿的临床资料进行分析,以探讨PMD患者的血清肌酶、肌电图及肌肉病理学检查的特点。