抗肌萎蛋白缺陷型肌营养不良症25例临床和病理研究

Clinical and Pathological Analysis on 25 Children with Muscular Dystrophy Caused by Deficiency of Dystrophin

目的探讨两种类型的抗肌萎蛋白(dystrophin)缺陷型肌营养不良症的临床表现、电生理和病理特点。方法根据dystrophin免疫组化染色,将25例肌营养不良患儿分为Duchenne型(DMD)和Becker型(BMD),各为11例和14例。对其临床、电生理和病理学特点进行对比分析。结果DMD发病年龄为(3.9±1.15)岁,磷酸肌酸激酶(CK)升高30～126倍,dystrophin完全缺失;BMD为(7.2±3.38)岁和2～35倍,dystrophin部分缺失。两型肌电图为肌源性损害,在光镜都有肌纤维变性坏死、opacqe肌纤维,结缔组织增生,吞噬和再生现象。透射电镜可观察到肌丝排列紊乱、肌浆网扩张、线粒体肿胀、肌浆膜缺损,肌原纤维溶解坏死、Z线排列紊乱等;但DMD损伤较BMD重。结论DMD和BMD都是抗肌萎蛋白缺陷所致,DMD的临床症状和病理改变都较BMD重。

Objective To explore Clinical, electromyogram and pathological characteristics of two types of muscular dystrophy caused by the deficiency of dystrophin. Methods Twentyfive children with muscular dystrophy were classified into Duchenne type （n = 11） and Becker type （n = 14） by dystrophin immunohistochemical stain. Clinical, electromyogram and pathological characteristics were analyzed and compared between DMD and BMD. Results The mean onset age of DMD was 3.9 i 1.15 years, level of creatine phosPhokinas was 30--126 times higher than that of normal, and dystrophin was ab- sent completely. BMD was 7.2 -＋ 3.38 years and 2-- 35 times, dystrophin was absent partly. Electromyogram showed muscle damage in all. All muscular biopsy showed muscular degeneration, necrosis, opacqe fiber, connective tissue hyperplasia, phagolysis and regeneration. Observing by transmission electronmicroscope, myofilament arranged disorderly, the duct of sarcoplasmic reticulum dilated, mitochondria swollen, sarcolemma broken, myofibrils were lysis and necrosis, Z - lines ar- ranged disorderly, and so on. The pathological changes in DMD were severer than those in BMD. Conclusions Both DMD and BMD are caused by dystrophin deficiency, but the clinical symptoms and damages in pathology are different. DMD is severer than BMD.