DMD患者骨骼肌抗肌萎缩蛋白表达与临床病理改变

目的探讨抗肌萎缩蛋白（dystrophin）免疫组织化学检查的临床价值及与Duchenne型肌营养不良（DMD）临床病理改变之问的相关性。方法通过组织学观察和免疫组织化学方法，对36例DMD患者骨骼肌dystrophin的表达情况、临床表现和肌肉病理改变进行观察分析。结果发现25例年龄在4岁以上的患儿多有比较典型的DMD临床表现，而11例4岁以下患儿症状比较轻。肌肉病理显示15例早期改变，17例中期改变，4例晚期改变，病理改变的严重程度与年龄相关。免疫组化染色显示36例患者的肌肉标本均有严重的dystrophin缺失，其中9例完全缺失，10例部分肌纤维膜有微弱着色，17例极少数肌纤维膜清楚着色，dystrophin的表达分级与病理改变分期及年龄无明显相关。结论检查dystrophin在肌纤维膜上的表达对DMD具有特异性诊断价值，但临床病理改变的严重程度主要与年龄和病程有关。

Changes of dystrophin expression in muscle of patients with DMD and its relevance to clinical pathology

Objective To identify expression of dystrophin in muscle fibers from 36 DMD patients and compared the expresion level with their clinical profiles and muscle pathological changes.Methods In addition to routing histological and histochenmical studies,expression of dystrophin in muscle fibers was observed by immunohistochemical reaction to anti-DYS antibody.Results Compared the older children,the younger children(<4 years old) usually presented mild and atypical clinical features.The muscle damage was usually more severe in elder children.Immunohistochemical reactions to dystrophin antibodies were completely absent in 9 cases,very weak in 10 cases,and remaining with scattered positive fibers.There were no correlation between expression of dystrophin and severity of muscle pathology changes.Dystrophin in muscle membrane were severely deficient in DMD patients.Muscle pathology changes were associated with age,but not clearly with the loss of dystrophin.Conclusion Some other factors may also play important role in the muscle damage excepting dytrophin.