对发育异常症患者的肌肉病理学的描述通常包括可模仿炎性肌病的炎性浸润。根据爱荷华大学在评估营养不良和炎症性肌病肌肉活检方面超过20年的机构经验,我们假设异常铁蛋白病的炎性组织病理学更类似于肢体束带型肌营养不良,如钙痛病和贝克尔肌营养不良,与真正的炎症性肌病不同。32例异常胰岛素病的肌肉活检,30钙损伤,30贝克尔肌营养不良症,通过CD3,CD4,CD8,CD20和PU.1免疫染色的数字定量分析,分析了30例炎症性肌病(皮肌炎和包涵体肌炎各15例)。还评估了MHCI类的表达和补体C5b-9的沉积。胰岛素异常病,钙损伤,与皮肌炎(p=0.05)和包涵体肌炎(p<0.0001)相比,Becker肌营养不良肌活检的炎性细胞浸润数量相似,CD3+T淋巴细胞明显少。在任何诊断组中鉴定的PU.1+巨噬细胞的数量没有统计学上的显著差异。与炎性肌病相比,MHCI类表达在肢带型肌营养不良中显著较低(p<0.0001)。相比之下,补体C5b-9的沉积在功能异常疾病中相似,皮肌炎,和包涵体肌炎活检,但明显大于钙痛和Becker肌营养不良活检(p=0.05)。与钙痛相比,Becker肌营养不良症,和炎症性肌病,最小炎症细胞浸润的独特特征,缺乏局灶性MHCI类,和弥漫性肌纤维补体C5b-9沉积是异常酶病肌肉活检的病理特征。
The descriptions of muscle pathology in dysferlinopathy patients have classically included an inflammatory infiltrate that can mimic inflammatory myopathies. Based on over 20 years of institutional experience in evaluating dystrophic and inflammatory myopathy muscle biopsies at the University of Iowa, we hypothesized the inflammatory histopathology of dysferlinopathy is more similar to limb-girdle pattern muscular dystrophies such as
calpainopathy and Becker muscular dystrophy, and distinct from true inflammatory myopathies. Muscle biopsies from 32 dysferlinopathy, 30
calpainopathy, 30 Becker muscular dystrophy, and 30 inflammatory myopathies (15 each of dermatomyositis and inclusion body myositis) were analyzed through digital quantitation of CD3, CD4, CD8, CD20, and PU.1 immunostaining. The expression of MHC class I and deposition of complement C5b-9 was also evaluated. Dysferlinopathy,
calpainopathy, and Becker muscular dystrophy muscle biopsies had similar numbers of inflammatory cell infiltrates and significantly fewer CD3+ T-lymphocytes than dermatomyositis (p = 0.05) and inclusion body myositis (p < 0.0001) biopsies. There was no statistically significant difference in the number of PU.1+ macrophages identified in any diagnostic group. MHC class I expression was significantly lower in the limb-girdle pattern muscular dystrophies compared to the inflammatory myopathies (p < 0.0001). In contrast, complement C5b-9 deposition was similar among dysferlinopathy, dermatomyositis, and inclusion body myositis biopsies but significantly greater than
calpainopathy and Becker muscular dystrophy biopsies (p = 0.05). Compared to
calpainopathy, Becker muscular dystrophy, and inflammatory myopathies, the unique profile of minimal inflammatory cell infiltrates, absent to focal MHC class I, and diffuse myofiber complement C5b-9 deposition is the pathologic signature of dysferlinopathy muscle biopsies.