Dystrophin蛋白在萎缩性肌病鉴别诊断的意义  

The differential diagnostic values of dystrophin expression in atrophy muscular disorders

作　　者：曾国勇[1] 李广生[1] 肖军兰[2] 

机构地区：[1]赣州市人民医院神经内科,江西赣州341000 [2]赣州市人民医院病理科,江西赣州341000

出　　处：《赣南医学院学报》2013年第2期178-180,共3页JOURNAL OF GANNAN MEDICAL UNIVERSITY

摘　　要：目的:探讨肌营养不良蛋白(Dystrophin蛋白)在萎缩性肌病的表达及意义。方法:对均表现为双下肢近端肌肉萎缩的43例肌营养不良患者、3例其他神经肌肉疾病患者(包括1例脂质沉积性肌病、2例运动神经元病)及5例正常对照者(NC组)的骨骼肌标本进行Dystrophin蛋白免疫组化染色。结果:Duchenne型肌营养不良(DMD)患者肌细胞膜上无显色,Becker型肌营养不良(BMD)患者全部为弱阳性,BMD/LGMD(肢带型肌营养不良)患者中6例肌细胞膜上显色浅淡、不连续或呈斑片状,其余15例患者肌细胞膜上染色正常;2例运动神经元病患者中1例肌细胞膜显色浅淡、呈斑片状,另1例染色正常。脂质沉积性肌病患者和正常对照肌细胞膜上染色均正常。结论:对于存在双下肢近端肌肉萎缩的临床表现相似的肌病患者,Dystrophin免疫组化染色可以将其大致区别开来,对早期预测肢体功能影响程度及正确地进行遗传咨询具有重要意义。Objectives： To explore the differential diagnostic values of dystrophin expression in atrophy muscular disorders. Methods ：Dystrophin was immunohistochemieally stained in muscle tissues from 43 cases of myodystrophy,3 cases of oth- er neuromuscular diseases and muscle tissues of 5 patients without neuromuscular disease. Results：The membrane of mus- cle cell didnl show dystrophin in Duehenne muscular dystrophy（ DMD ,the discontinuous pattern positive stain was showed in Becker muscular dystrophy （BMD. 6 cases of BMD/ LGMD （limb-girdle muscular dystrophy） showed discontinuous pattern positive stain,while other 15 cases showed negative. 1 in 2 cases of motor neuron disease showed discontinuous pattern positive stain of dystrophin, while negative in the other. The lipid storage myopathy and normal control cases all showed negative. Conclusions ： The patients with similar clinical symptoms that shows muscular atrophy in proximal of both lower extremities could approximately be differentiated by Dystrophin immunehistochemically stain in muscle tissues, which is important to early predict the limbs＇function that could be affected and to correctly progress genetic counseling.

关 键 词：DUCHENNE型肌营养不良 BECKER型肌营养不良 肌营养不良蛋白 

分 类 号：R746.2[医药卫生—神经病学与精神病学]