路菲;张宁;康琳;孙晓红;田然;郭潇潇;留永健;张文;彭琳一;苏童;曹剑;王怡宁;钱敏;曹宇泽;杨璐;刘跃华;张路;赵肖奕;冷泠;
LU Fei;ZHANG Ning;KANG Lin;SUN Xiaohong;TIAN Ran;GUO Xiaoxiao;LIU Yongjian;ZHANG Wen;PENG Linyi;SU Tong;CAO Jian;WANG Yining;QIAN Min;CAO Yuze;YANG Lu;LIU Yuehua;ZHANG Lu;ZHAO Xiaoyi;LENG Ling;Department of Geriatrics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College;Department of Cardiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College;Department of Pulmonary and Critical Care Medicine,

• 1:中国医学科学院北京协和医院老年医学科
• 2:中国医学科学院北京协和医院心内科
• 3:中国医学科学院北京协和医院呼吸与危重症医学科
• 4:中国医学科学院北京协和医院风湿免疫科

摘要(Abstract)：

一例老年女性患者,慢性病程,临床表现为下肢进行性肌力下降、心力衰竭、二氧化碳潴留,伴眶周色素沉着、眉周毳毛增多及多种自身抗体阳性。经多学科讨论,以膈肌运动减低引起的限制性通气功能障碍为突破口,逐步梳理病因,结合临床表现、血液学与影像学特征以及股四头肌肌肉病理与免疫组化结果,最终诊断为抗线粒体抗体相关炎性肌病。通过纠正心力衰竭、间断无创呼吸机辅助通气及康复训练,患者临床症状及功能状态明显改善。该患者不具有抗线粒体抗体相关炎性肌病的典型表现,能快速明确病因并解决诊疗决策中的难题,再次体现了多学科协作在疑难病诊治中的重要作用。
An elderly woman with a chronic course of disease presented with progressive weakness of lower limbs, heart failure, carbon dioxide retention, periorbital pigmentation, increased hair around the eyebrows, aswell as multiple positive autoantibodies. After multidisciplinary team discussion, restrictive ventilatory dysfunction caused by significantly decreased diaphragm movement was taken as a breakthrough to sort out the etiology step by step. Based on clinical manifestations, serological and imaging features, as well as immunohistochemical staining of quadriceps femoris pathological complement, the final diagnosis of inflammatory myopathy associated with anti-mitochondrial antibodies was established. After correcting heart failure, intermittent non-invasive ventilation and rehabilitation training, clinical symptoms and functional status of the patient were significantly improved. The joint participation of the multidisciplinary team to identify the causes and solve problems in diagnosis and treatment decision-making reflects the great significance of multidisciplinary collaboration in rare diseases.

关键词(KeyWords)： 抗线粒体抗体相关炎性肌病;下肢无力;心力衰竭;Ⅱ型呼吸衰竭;老年
inflammatory myopathy associated with anti-mitochondrial antibodies;lower limb weakness;heart failure;type 2 respiratory failure;elderly

Abstract:

Keywords:

基金项目(Foundation): 国家重点研发计划（2018YFC2000300,2018YFC2002100,2018YFC2002104）~~

作者(Authors): 路菲;张宁;康琳;孙晓红;田然;郭潇潇;留永健;张文;彭琳一;苏童;曹剑;王怡宁;钱敏;曹宇泽;杨璐;刘跃华;张路;赵肖奕;冷泠;
LU Fei;ZHANG Ning;KANG Lin;SUN Xiaohong;TIAN Ran;GUO Xiaoxiao;LIU Yongjian;ZHANG Wen;PENG Linyi;SU Tong;CAO Jian;WANG Yining;QIAN Min;CAO Yuze;YANG Lu;LIU Yuehua;ZHANG Lu;ZHAO Xiaoyi;LENG Ling;Department of Geriatrics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College;Department of Cardiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College;Department of Pulmonary and Critical Care Medicine,

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