摘要
目的:探讨dysferlin肌病的临床和病理特点。方法:对9例患者的肌肉病理标本进行组织化学和免疫组化染色检查,并对肌肉组织进一步行dysferlin蛋白的Westernblot分析。结果:9例患者中确诊6例为dysferlin肌病,病理表现均为肌源性损害,无边缘空泡,其中2例患者的病理分析有炎细胞浸润。根据临床表现特点,6例患者中有3例为Miyoshi肌病(MM),2例为肢带型肌营养不良2B型(LGMD2B),1例为远端前群肌病(DACM)。结论:Dysferlin肌病在肌电图上为肌源性损害、肌酶显著升高,其临床表现多样,dysferlin免疫组化染色联合Westernblot有着重要诊断意义。
To investigate the clinical and pathological characteristics of dysferlinopathy. Methods： The pathological characteristics of 9 cases were examined by the methods of histochemistry and immunohistochemistry. Levels of dysferlin expression were analyzed by Western blot. Results ： 6 of the 9 patient were diagnosed as dysferlinopathies. All 6 cases showed myopathic pattern without rimmed vacuoles, and 2 of them have some inflammatory cells infiltration. According to the clinical features, 3 cases were diagnosed as Miyoshi myopathy（MM）, 2 as limb girdle muscle dystrophy 2B（LGMD 2B） and 1 as distal anterior compartment myopathy（DACM）. Conclusion ： Dysferlinopathy is a kind of myopathy with high serum creatase and various clinical manifestation, and combination of Western blot and immunohistochemistry examination of dysferlin can be contributed to the diagnosis of dysferlinopathy.
出处
《中国临床神经科学》
2007年第3期296-301,共6页
Chinese Journal of Clinical Neurosciences
