无症状/轻症状高肌酸激酶血症20例临床研究  

Clinical Studies of Twenty Patients with Asymptomatic/Pauci-symptomatic Hyper Creatine Kinase Emia

作　　者：蔡爽[1] 罗苏珊[1] 赵重波[1] 朱雯华[1] 奚剑英[1] 岳冬曰[2] 宋捷[1] 孙翀[1] 敬思思 陈阳[1] 汪寅[3] 卢家红[1] 

机构地区：[1]复旦大学附属华山医院神经内科,200040 [2]上海市静安区中心医院神经内科,200040 [3]复旦大学附属华山医院病理科,200040

出　　处：《中国临床神经科学》2016年第2期173-178,共6页Chinese Journal of Clinical Neurosciences

基　　金：上海市卫计委重点项目(编号:201440019);上海市卫计委青年项目(编号:20154Y0004);上海市科委重点项目(编号:15DZ1208002)

摘　　要：目的明确无症状/轻症状高肌酸激酶血症的病因及肌肉病理的诊断价值。方法对20例无症状/轻症状高肌酸激酶血症患者行肌肉病理检测,部分病例进一步行酶学和基因检测。结果纳入的20例患者中,病理异常17例（85.0%）,提示诊断11例（55.0%）：dysferlin相关肌病6例,dystrophin相关肌病4例,Pompe病1例;另3例分别确诊为calpain相关肌病、炎性肌病及药物相关肌病。共14例（70.0%）获得确诊。肌酸激酶〈2000 U·L^-1、2000-10000 U·L^-1和〉10000 U·L^-1患者中分别确诊2/4例（50.0%）、9/13例（69.2%）和3/3例（100.0%）。结论肌肉活检对无症状/轻症状高肌酸激酶血症患者的诊断有重要价值;肌酸激酶水平与确诊率有一定关联。Aim To understand the etiology of asymptomatic or pauci-symptomatic hyper CK emia and evaluate the value of muscle pathology in diagnostic process. Methods Twenty muscle biopsy samples were enrolled for muscle pathology review and further enzyme analysis and genetic screening accordingly. Results Myopathic changes of biopsy was revealed in seventeen（85.0%） individuals. Eleven patients（55.0%） got a final diagnosis through muscle biopsy： 6 dysferlinopathy, 4 dystrophinopathy, and 1 Pompe disease. Three other patients were diagnosed as calpainopathy, myositis and drug-related myopathy. Fourteen（70.0%） patients were finally diagnosed. As regard with serum CK level, 2 individuals were finally diagnosed in 4 cases（50.0%） with serum CK less than 2 000 U·L^-1, and 9 patients were identified in 13 cases（69.2%） with serum CK between2 000-10 000 U·L^-1, and 3 patients（100%） with serum CK exceeding 10 000 U·L^-1 totally got a final diagnosis. Conclusion Asymptomatic or pauci-symptomatic hyper CK emia is a syndrome caused by various muscular diseases. Muscle biopsy is crucial in diagnosing patients with asymptomatic or pauci-symptomatic hyper CK emia, and serum CK level might have a role in predicting the positivity of final diagnosis.

关 键 词：肌酸激酶 无症状/轻症状高肌酸激酶血症 肌肉活检 DYSFERLIN DYSTROPHIN 肌病 

分 类 号：R746[医药卫生—神经病学与精神病学]