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目的探讨中国 dysferlinopathy 患者的临床及分子病理学特点。方法分析已确诊的4例肢带型肌营养不良2B 型、4例 Miyoshi 远位型肌营养不良患者的临床、骨骼肌活体组织检查和免疫组织化学染色病理特点。并以 Duchenne 肌营养不良4例,多发性肌炎和包涵体肌炎各2例作为对照。结果 dysferlinopathy 患者均以进行性加重的肌无力、萎缩为主要症状,符合进行性肌营养不良的临床表现。组织化学染色示 dysferlinopathy 患者出现不同程度的肌纤维变性、坏死、再生,结缔组织增生;多数病例可见炎性细胞浸润;抗 dysferlin 单克隆抗体免疫组织化学染色显示8例 dysferlinopathy患者均出现 dysferlin 蛋白在肌纤维膜上和胞质内的缺失。结论 (1)dysferlinopathy 符合进行性肌营养不良的临床、病理表现;(2)抗 dysferlin 单克隆抗体免疫组织化学染色病理分析是诊断dysferlinopathy 的可靠方法,值得临床推广应用。
Objective To investigate the clinical and molecular pathological features of dysferlinopathy in China. Methods Clinical, skeletal muscle biopsy and immunohistochemical staining of 4 cases of limb muscular dystrophy type 2B and 4 cases of Miyoshi distant muscular dystrophy were analyzed. And Duchenne muscular dystrophy in 4 cases, polymyositis and inclusion body myositis in 2 cases as a control. Results dysferlinopathy patients with progressive aggravation of muscle weakness, atrophy as the main symptoms, in line with the clinical manifestations of muscular dystrophy. Histochemical staining showed that dysferlinopathy patients had different degree of myofibrosis, necrosis, regeneration and connective tissue hyperplasia; Inflammatory cell infiltration was observed in most cases; Immunohistochemical staining of antifer dyslin monoclonal antibody showed that dysferlinopathy appeared dysferlinopathy in muscle fiber membrane On and in the cytoplasm of the absence. Conclusions (1) Dysferlinopathy conforms to the clinical and pathological manifestations of progressive muscular dystrophy. (2) The immunohistochemical staining of antifer dysferlin monoclonal antibody is a reliable method to diagnose dysferlinopathy and is worthy of clinical application.