Duchenne型进行性肌营养不良40例临床分析

目的 探讨Duchenne型进行性肌营养不良(DMD)的临床特点及肌酶、肌电图、肌肉活检的诊断价值.方法 对40例经dystrophin蛋白检测确诊的DMD患儿的临床特征及实验室检查资料进行分析.结果 40例患儿平均年龄7.2岁,平均发病年龄4.5岁,15%患儿有家族史.40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,≤8岁年龄组CPK值高于＞8岁组.所有患儿肌肉活检均有肌纤维变性和坏死,12.5%的患儿尚伴炎性细胞浸润.在有肌源性损害同时,15%的患儿肌电图尚有神经源性损害.结论 血清肌酶、肌电图及肌活检是DMD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.

Clinical analysis of 40 children with Duchenne muscular dystrophy

Objectives To explore the clinical characteristics of the children with Duchenne muscular dystrophy and the diagnostic value of creatase, electromyogram and muscle biopsy. Methods The clinical and laboratory data was analyzed in 40 children with confirmed diagnosis of Duchenne muscular dystrophy by dystrophin detection. Results Mean age of the 40 children was 7.2 years old, and their mean onset age was 4.5 years old, and 15% of them had positive family history. All presented typical signs and symptoms of the disease. Level of creatine phosphokinase in patients of eight years old or less was higher than that of those older than eight. All muscular biopsy showed muscular degeneration and necrosis, with 12.5% accompanied with inflammatory cell infiltration. Electromyogram showed muscle damage in all and 15% of them also showed neuropathy. Conclusions Creatase, electromyogram and muscle biopsy are important supplementary diagnostic methods. For patients with neuropathy in electromyogram and inflammatory cell infiltrate in biopsy, determination of gene and dystrophin should be performed.