Duchenne型肌营养不良的临床和病理及抗肌萎缩蛋白表达

目的：归纳总结Duchenne型肌营养不良（DMD）的临床表现,组织病理特点及抗肌萎缩蛋白表达情况。方法：通过临床、病理及免疫组化染色方法,对16例DMD患者的临床表现,肌肉病理改变和肌肉抗肌萎缩蛋白表达情况进行观察分析。结果：年龄〉4岁的14例患儿均有比较典型的DMD临床表现;而年龄〈4岁的2例患儿症状较轻。肌肉病理显示2例为早期改变、11例为中期改变、3例为晚期改变,病理改变严重程度与年龄相关。免疫组化染色显示16例患者的肌肉标本抗肌萎缩蛋白均完全缺失。结论：DMD患者的临床和病理表现的严重程度与年龄有关,检查抗肌萎缩蛋白在肌纤维膜上表达是诊断DMD的金标准。

Clinical Features of Muscle Pathological Changes and Expression of Dystrophin in Muscle Fibers of Duchenne Muscular Dystrophy

Aim： To summarize clinical features,muscle pathological changes and expression of dystrophin in muscle fibers from 16 Duchenne muscular dystrophy（DMD） patients.Methods： The clinical features,muscle pathological changes and expression of dystrophin in muscle fibers from 16 Duchenne muscular dystrophy（DMD） patients were observed by using routing pathological and histochemical studies.Results： 14 patients older children（4 years old） had typical clinical features,and 2 patients younger children（4 years old） had mild clinical features.The muscle pathological changes were associated with age,2 cases of early changes,11 cases of mild-term changes and 3 patients of late changes.Immunohistochemical reactions showed that dystrophin antibodies of 16 patients were completely deficient.Conclusion： The clinical features and muscle pathological changes of DMD patients were associated with age.Testing dystrophin expression in muscle fiber was the gold standard for diagnosis of DMD.