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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 investigate the clinical manifestations, electrophysiological and pathological features of two types of dystrophin-deficient muscular dystrophy. Methods According to the dystrophin immunohistochemical staining, 25 cases of muscular dystrophy were divided into Duchenne type (DMD) and Becker type (BMD), with 11 cases and 14 cases in each. The clinical, electrophysiological and pathological features were compared. Results The age of onset of DMD was (3.9 ± 1.15) years old. The creatine phosphokinase (CK) increased 30- to 126-fold and dystrophin completely disappeared. The BMD was (7.2 ± 3.38) years old and 2-35 times longer, and dystrophin was partially deleted. EMG for both types of myogenic damage, in the light microscope, there are muscle degeneration and necrosis, opacqe muscle fibers, connective tissue proliferation, phagocytosis and regeneration phenomenon. Transmission electron microscopy showed disarrangement of myofilament, sarcoplasmic reticulum dilatation, mitochondria swelling, sarcoplasmic reticulum, myofibrillar lysing and necrosis, and dislocation of Z line. However, the damage of DMD was heavier than that of BMD. Conclusion Both DMD and BMD are caused by dystrophin deficiency. The clinical symptoms and pathological changes of DMD are more severe than those of BMD.