误诊为多发性肌炎的抗肌萎缩蛋白病个案报道  

Case report of dysferlinopathy initially misdiagnosed as polymyositis

作　　者：兰维娅 唐芳 马武开 姚血明 高雪琴 LAN Weiya;TANG Fang;MA Wukai;YAO Xueming;GAO Xueqin(The Second Clinical College,Guizhou University of Traditional Chinese Medicine,Guizhou Province,Guiyang550025,China;Department of Rheumatology and Immunology,the Second Affiliated Hospital of Guizhou University of Traditional Chinese Medicine,Guizhou Province,Guiyang550001,China)

机构地区：[1]贵州中医药大学第二临床医学院,贵州贵阳550025 [2]贵州中医药大学第二附属医院风湿免疫科,贵州贵阳550001

出　　处：《中国医药导报》2025年第1期183-187,共5页China Medical Herald

基　　金：国家自然科学基金资助项目(82160917);贵州省科技计划项目(黔科合基础-ZK[2023]一般435);贵州省中医药管理局中医药、民族医药科学技术研究项目(QZYY-2024-005)。

摘　　要：抗肌萎缩蛋白病是一类遗传性肌肉病,属于肌营养不良的一种,临床早期易误诊为多发性肌炎。本文报道1例51岁男性抗肌萎缩蛋白病患者被误诊为多发性肌炎,最初因肢体无力和肌肉疼痛就诊,实验室检查发现心肌酶谱升高,初步诊断为多发性肌炎。然而,随着进一步的肌肉病理活检显示DYSGENE基因突变,最终确诊为抗肌萎缩蛋白病。该病例强调对临床医师识别抗肌萎缩蛋白病的挑战,特别在无明显家族史的情况下;在肌肉疾病的鉴别诊断中,遗传性因素的重要性;在诊断不明确或治疗无效时,考虑进行深入遗传学评估的必要性;同时提高临床工作者对该病的认识,以期减少误诊及漏诊。Dysferlinopathy is a type of hereditary muscle disease,belonging to muscular dystrophy,which is easily misdiagnosed as polymyositis in the early clinical stage.This article reports one case of 51 year old male patient with dysferlinopathy who is misdiagnosed as polymyositis.Initially,he seeking medical attention due to limb weakness and muscle pain,laboratory test reveals an elevated myocardial zymogram,and preliminary diagnosis is polymyositis.However,with further muscle pathological biopsy showing DYSGENE gene mutations,it is ultimately diagnosed as dysferlinopathy.This case emphasizes the challenge for clinicians to identify dysferlinopathy,especially in the absence of clear family history;the importance of genetic factors in the differential diagnosis of muscle diseases;the necessity of conducting in-depth genetic evaluation when the diagnosis is unclear or treatment is ineffective;at the same time,increasing clinical workers’awareness of the disease,in order to reduce misdiagnosis and missed diagnosis.

关 键 词：肌营养不良 心肌酶谱 病理活检 

分 类 号：R5[医药卫生—内科学]