肌活检在肌病诊断准确性的临床研究-单中心1年期间56例患者的回顾性分析

Clinical study for diagnostic accuracy of muscle biopsy in myopathy-A retrospective analysis of 56 patients during a 1 year period in a single center

目的探讨肌肉活体组织检查(肌活检)的病理表现并结合临床、电生理、肌肉影像学及相关实验室检查在肌肉疾病中的诊断价值。方法收集2017年7月-2018年7月在本院行肌活检的56例患者,分析肌肉病理学与人口学、肌电图、肌肉磁共振、血清肌酸激酶、相关抗体和基因检测的相关性,并评估其诊断价值。结果①男36例,女20例,年龄5~69岁、平均年龄(39.2±18.6)岁;②肌电图显示肌源性损害者占83.6%(46/55),其中6例合并强直电位,6例合并神经源损害;可疑肌源性损害12.7%(7/55);单纯神经源性损害1.8%(1/55);正常1.8%(1/55);③肌肉磁共振异常率87.9%(29/33);肌酸激酶升高者60%(33/55),中位823[349, 2505.5] U/L;4例进行肌炎相关抗体检查者3例异常;17例进行基因检查者12例提示肌病诊断,其中仅6例家族史阳性;④通过肌肉组织病理检查并结合临床、抗体和基因检测80.4%的患者(45/56)能够明确肌病诊断,明显高于肌活检之前(23.2%)(P<0.01)。结论肌活检能明显提高肌病的准确诊断率。

Objective To explore diagnostic value of muscle biopsy for the muscle disorders based on pathological features of muscles in patients, combining with the clinical, electrophysiological, muscle imaging and related laboratory fingdings.Methods The correlations of muscle pathology with demography, electromyography, muscle magnetic resonance imaging(MRI), serum creatine kinase, related antibodies and genetics were analyzed and the diagnostic significance was evaluated in 56 patients who were underwent muscle biopsy in our hospital from July 2017 to July 2018.Results(1)There were 36 males and 20 females, aged(y/o) 5 ~ 69, with average of 39.2±18.6.(2) Electromyographical studies showed myogenic impairments in 83.6%(46/55) of the patients, including 6 cases with myotonic discharges, 6 with neurogenic changes, suspicious myogenic impairments in 12.7%(7/55), purely neurogenic in 1.8%(1/55) and normal in 1.8%.(3) The abnormal rate of muscle MRI was 87.9%(29/33), increased creatine kinase level accounted for 60%(33/55), median 823 [349, 2505.5] U/L. 3 out of 4 patients showed positive myositic antibodies, the findings in 12 out of 17 patients who were performed genetic testing supported and confirmed the diagnosis of myopathy, in which there were only 6 with positive family history.(4) The diagnosis of varied myopathies was able to be confirmed in 80.4% of patients(45/65) through muscle histopathology, combined with clinical, antibody and genetic results, in which the rate of diagnostic accuracy was significantly higher than that in those before muscle biopsies were performed(23.2%)(P<0.01).Conclusion Pathological examination of muscle biopsy significantly improved the accurate diagnosis rate of myopathy.