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目的探讨 dysferlinopathy 的临床、病理及分子病理特征。方法对45例临床病理诊断为肢带型肌营养不良(LGMD)和 Miyoshi 肌病(MM)患者的冰冻肌肉标本通过免疫组化染色(IHC)观察 dysfedin、α-肌聚糖和肌营养不良蛋白(dystrophin)的表达,进一步用 Western 印迹分析法(WB)测定肌肉组织中 dysfedin 含量。结果在39例 LGMD 和6例 MM 患者肌肉标本中发现5例dysferlin 完全缺失,另有3例 dysferlin 表达量在正常对照值的15%以下,这8例患者符合dysferlinopathy 的诊断,其中 LGMD 3例,MM 5例。平均发病年龄为18.8岁,2例 LGMD 患者为同胞兄妹,1例 MM 患者的父母为姑表兄妹,提示本病属常染色体隐性遗传方式。血清 CK585～21 280IU/L,平均6240 IU/L,肌电图均显示肌源性损害,肌肉病理为典型肌营养不良改变,3例有炎细胞浸润。结论 dysferlinopathy 临床和普通肌肉病理缺乏特异性,部分患者肌组织中伴有炎细胞浸润,容易误诊为炎症性肌病。应用免疫组化和蛋白印迹方法对 dysferlin 的表达进行分析是诊断本病以及与炎症性肌病鉴别的必要手段。
Objective To investigate the clinical, pathological and molecular pathological features of dysferlinopathy. Methods Frozen muscle specimens of 45 patients with clinically and pathologically diagnosed limb muscular dystrophy (LGMD) and Miyoshi myopathy (MM) were examined for dysfedin, α-sarcosin and dystrophin by immunohistochemical staining (IHC) (dystrophin) expression, further Western blot analysis (WB) determination of muscle tissue dysfedin content. Results In the muscle samples of 39 cases of LGMD and 6 cases of MM, 5 cases of dysferlin were found in total, and 3 cases of dysferlin were below 15% of the normal control. The 8 cases were diagnosed as dysferlinopathy, including 3 cases of LGMD, MM 5 cases. The average age of onset was 18.8 years old. Two LGMD patients were siblings, and one MM was a cousin, suggesting that the disease is autosomal recessive. Serum CK585 ~ 21 280IU / L, an average of 6240 IU / L, EMG showed myogenic damage, muscular pathology as a typical muscular dystrophy changed in 3 cases of inflammatory cell infiltration. Conclusion The clinical manifestations of dysferlinopathy and general muscle pathology are not specific. Some patients are infiltrated with inflammatory cells in the muscle tissue and are easily misdiagnosed as inflammatory myopathies. Analysis of the expression of dysferlin using immunohistochemistry and Western blotting is an essential tool in the diagnosis of this disease and its identification with inflammatory myopathies.