强直性肌营养不良症患者肌肉病理学特点研究

Study on muscular pathological characteristics in myotonic dystrophy

目的探讨强直性肌营养不良症患者肌肉病变的病理学特点。方法选择1986-2003年经临床和肌电图检查明确诊断的14例强直性肌营养不良症患者,采用开放性活检手术方法获得肱二头肌肌肉标本,分别进行苏木素-伊红(HE)、改良Gomori三色(MGT)、高碘酸Schiff反应(PAS)、油红“O”(ORO)、还原型辅酶I-四氮唑还原酶(NADH-TR)、非特异性酯酶(NSE)及ATP酶等多种组织化学染色,并于光学显微镜下观察肌肉组织的病理学变化特点。结果HE染色显示,14例患者肌纤维直径大小不一,但肌纤维萎缩的数量及形态不同,其中7例萎缩的肌纤维呈角状或长条形;5例呈小圆形;2例小角状与小圆形萎缩的肌纤维混合存在,数量相近。但变性及坏死性改变均不明显。有5例患者可见典型的类圆形、弧形、三角形或梭形肌质块,位于肌纤维中央、外周、一角或一侧,其形态与在肌纤维中所处的位置有关。肌质块具有如下特点:HE染色呈紫红色团块状结构;改良Gomori三色染色呈深蓝色,且可伴有红染,呈不典型性破碎红纤维,并可见线粒体数量增加;高碘酸Schiff反应、非特异性酯酶、还原型辅酶Ⅰ-四氮唑还原酶等酶反应活性明显增强;ATP酶染色显示14例患者中11例肌纤维有其优势性,呈明显的肌源性群组化现象,6例为Ⅰ型肌纤维优势,5例呈Ⅱ型肌纤维优势;3例肌纤维分型正常。结论肌质块及肌源性群组化为强直性肌营养不良症肌肉病变的病理学特点。

Objective To study the muscular pathological characteristics in myotonic dystrophy （DM）. Methods Fourteen DM patients definitly diagnosed by clinical and eleetromyographie examination in PLA general hospital during 1986 to 2003 were enrolled in this study. The muscle samples were obtained by open biopsy from biceps and stained by histochemieal staining with hematoxylin-eosin （HE）, modified Gomori triehrome （MGT）, periodic acid Sehiff （PAS）, oil-red-O （ORO）, reduced nicotinamide adenine dinueleotide-tetrzolium reduetase （NADH-TR）, nonspecific esterase （NSE） and adenosine triphosphatase （ATPase） respectively. Then the samples were observed under light microscope for examing the pathological features of muscle tissue. Results The HE staining demonstrated that the myofiber diameters in all muscle samples were varied and the number and shape of atrophic muscle fibers were different. The atrophic myofibers in 7 cases presented in angular or rectangular shape, 5 in small round, 2 in mixture of similar amount with small angular and round shape. But degenerative and necrotic fibers were rare. The classical sarcoplasmie masses were shown in the shape of round, are, triangular, or fusiform in 5 cases, which located in the center, peripheral, comer or lateral side of fibers. And these sareoplasmie masses characterized as red purple in HE staining, dark blue or associated with red in MGT staining presented atypical broken fibers and increased mitochondria. Reactions or enzymatic activities were significantly enhanced in PAS, ORO, NSE, and NADH-TR staining. In ATPase staining, the predominance of fiber type distribution in 11 out of 14 patients, showed myogenic grouping, among them 6 biopsies showing type Ⅰ predominance, 5 with type Ⅱ predominance and 3 with normal typing of myofibers. Conclusion Sarcoplasmie masses and myogenic grouping are the pathological characteristics of myopathy in DM.