系统性红斑狼疮伴微管聚集1例报告并文献复习  

Tubular aggregates in systemic lupus erythematosus:A case report and review of literature

作　　者：赖小梅 朱啸巍 张晓洁[3,4] 栾兴华 王文政 LAI Xiaomei;ZHU Xiaowei;ZHANG Xiaojie;LUAN Xinghua;WANG Wenzheng(Shanghai Mental Health Center,Shanghai Jiao Tong University School of Medicine,Shanghai 200030,China)

机构地区：[1]江西省瑞金市人民医院神经内科,瑞金342400 [2]安徽医科大学附属宿州医院神经内科 [3]上海交通大学医学院附属第六人民医院神经内科 [4]上海市神经系统罕见疾病生物样本库和精准诊断专业技术服务平台 [5]上海交通大学附属精神卫生中心

出　　处：《中国神经精神疾病杂志》2024年第10期636-640,共5页Chinese Journal of Nervous and Mental Diseases

基　　金：上海市自然科学基金面上项目(编号:24ZR1456900);上海市科技创新行动计划(编号:23DZ2291500);上海市第六人民医院基础科研面上项目培育项目(编号:ynms202209);安徽省高等学校科学研究项目(编号:2022AH050680)。

摘　　要：微管聚集是肌肉活检中观察到的超微结构异常,可出现在多种获得性和遗传性疾病患者的肌肉活检标本中。现报告1例34岁男性系统性红斑狼疮患者,长期口服甲泼尼龙、羟氯喹、他克莫司等,药物调整过程中出现双下肢近端间歇性肌无力。肌酸激酶正常,抗U1-RNP/Sm 49.45 RU/mL增高,肌电图示左侧髂腰肌肌源性损害,肌肉病理见肌纤维内微管聚集现象,经基因检测排除遗传性微管聚集肌病。结合文献复习,探讨微管聚集的病因及临床特点,提高对微管聚集相关疾病诊断的认识。本例患者提示,系统性红斑狼疮患者可出现波动性肌无力以及肌肉病理微管聚集现象,调整SLE药物后症状可部分缓解。Tubular aggregates(TA)are ultrastructural abnormalities in muscle biopsies,which can be detected in muscle biopsy specimens from patients with a variety of hereditary and acquired disorders.A 34-year-old male patient diagnosed with systemic lupus erythematosus(SLE)presented with intermittent muscle weakness localized to the proximal extremities of both lower limbs during prolonged oral administration of methylprednisolone,hydroxychloroquine and tacrolimus.Laboratory findings indicated normal creatine kinase levels,and anti-U1-RNP/Sm antibodies were elevated up to 49.45 RU/mL.Electromyography revealed myogenic lesions in the left iliopsoas muscle and muscle pathology demonstrated TA within the muscle fibers.Genetic testing excluded the possibility of hereditary disorders with tubular aggregas.Combined with literature review,the etiology and clinical characteristics of TA were discussed to increase the understanding of the diagnosis of diseases with TA.This case report demonstrates that SLE patients can have fluctuating muscle weakness and TA in muscle pathology.The symptoms of SLE can be partially relieved by adjusting SLE medications.

关 键 词：系统性红斑狼疮 肌无力 肌肉活检 微管聚集 管聚集肌病 药物性管聚集肌病 混合性结缔组织病 

分 类 号：R593.24[医药卫生—内科学] R747.9[医药卫生—临床医学]