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肌力下降、呼吸衰竭、心力衰竭、抗线粒体抗体阳性——罕见炎性肌病的不典型表现

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

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. 肌力下降、呼吸衰竭、心力衰竭、抗线粒体抗体阳性——罕见炎性肌病的不典型表现[J]. 协和医学杂志, 2022, 13(1): 138-146. doi: 10.12290/xhyxzz.2020-0109
引用本文: 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. 肌力下降、呼吸衰竭、心力衰竭、抗线粒体抗体阳性——罕见炎性肌病的不典型表现[J]. 协和医学杂志, 2022, 13(1): 138-146. doi: 10.12290/xhyxzz.2020-0109
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. Decreased Muscle Strength, Type 2 Respiratory Failure, Heart Failure, Positive Anti-mitochondrial Antibodies—Rare Atypical Manifestations of Inflammatory Myopathy[J]. Medical Journal of Peking Union Medical College Hospital, 2022, 13(1): 138-146. doi: 10.12290/xhyxzz.2020-0109
Citation: 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. Decreased Muscle Strength, Type 2 Respiratory Failure, Heart Failure, Positive Anti-mitochondrial Antibodies—Rare Atypical Manifestations of Inflammatory Myopathy[J]. Medical Journal of Peking Union Medical College Hospital, 2022, 13(1): 138-146. doi: 10.12290/xhyxzz.2020-0109

肌力下降、呼吸衰竭、心力衰竭、抗线粒体抗体阳性——罕见炎性肌病的不典型表现

doi: 10.12290/xhyxzz.2020-0109
基金项目: 

国家重点研发计划 2018YFC2000300

国家重点研发计划 2018YFC2002100

国家重点研发计划 2018YFC2002104

详细信息
    通讯作者:

    张宁, E-mail: 253571870@qq.com

  • 中图分类号: R685.2

Decreased Muscle Strength, Type 2 Respiratory Failure, Heart Failure, Positive Anti-mitochondrial Antibodies—Rare Atypical Manifestations of Inflammatory Myopathy

Funds: 

National Key R & D Program of China 2018YFC2000300

National Key R & D Program of China 2018YFC2002100

National Key R & D Program of China 2018YFC2002104

More Information
  • 摘要: 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。
    作者贡献:路菲负责病例整理、文章撰写及修订;张宁负责提供文章构思及修订;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、冷泠参与多学科讨论并提供诊疗思路。
    利益冲突:所有作者均声明不存在利益冲突
    注:本文发表已获得患者本人知情同意。
  • 图  1  患者双侧眶周皮肤色素沉着伴眉周毳毛增多

    图  2  心脏MRI mapping序列示心肌T1和T2信号绝对值均增高

    图  3  MRI示双侧大腿各组肌群及皮下脂肪在T2压脂像均呈现弥漫性异常高信号

    图  4  患者股四头肌病理及免疫组化染色结果

    A.HE染色示肌纤维明显大小不等,部分肌纤维中重度萎缩,个别肌纤维肥大/变性(×100);B.COX染色示个别肌纤维膜下局部深染,个别肌纤维内斑片状淡染(×100);C.MHC染色示肌纤维膜有阳性着色(×100);D.抗C5b-9染色示许多肌纤维周边阳性染色(×100)

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出版历程
  • 收稿日期:  2020-12-30
  • 录用日期:  2021-02-18
  • 网络出版日期:  2021-06-07
  • 刊出日期:  2022-01-30

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