dysferlinopathy患者八例临床及分子病理学特点

Analysis of clinical and molecular pathology in 8 patients of Chinese dysferlinopathy

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 Four patients with limb-girdle muscular dystrophy2B（LGMD2B） and 4 patients with Miyoshi-type distal muscular dystrophy（MMD） were clinically analyzed, their skeletal muscle were biopsied and inmaunohistochemical stained. Four cases of each Duchenne-Aran muscular atrophy and myotis were served as controls. Results The clinical situation of dysferlinopathy was characterized by progressive muscle weakness and atrophy, consistent with progressive muscular dystrophy. Histochemical staining revealed muscle fibers degenerating, regenerating and necrosis in a varying degree. Connective tissue was seen proliferated and inflammatory cells infiltrated in the majority of cases. Immunohistochemical staining with anti-dysferlin monoclonal antibody identified the deficiency of dysferlin on the sarcolemma and in the sarcoplasm of 8 cases with dysferlinopathy. Conclusions （ 1 ） The clinical and pathological characters of dysferlinopathy are consistent with progressive muscular dystrophy; （2）Anti-dysferlin monoclonal antibody inmaunohistochemical staining is a reliable method to diagnose dysferlinopathy, which is worth of wide application in clinic.