Chinese Medical Sciences Journal ›› 2021, Vol. 36 ›› Issue (4): 265-278.doi: 10.24920/003883

• 论著 • 上一篇    下一篇

临床表现为高碳酸血症的BAG3相关肌原纤维性肌病:一例病例报告及文献回顾

徐燕1,刘诗璇2,许文兵1,罗金梅1,牛静雯3,刘智3,高金明1,王京岚1,戴毅3,*(),王孟昭1,*()   

  1. 1中国医学科学院 北京协和医学院,北京协和医院 呼吸和危重症医学科,北京 100730
    2中国医学科学院 北京协和医学院,北京协和医院 内分泌科, 北京 100730
    3中国医学科学院 北京协和医学院,北京协和医院 神经科,北京 100730
  • 收稿日期:2021-01-25 出版日期:2021-12-31 发布日期:2022-01-06
  • 通讯作者: 戴毅,王孟昭 E-mail:pumchdy@pumch.cn;mengzhaowang@sina.com

BAG3-Related Myofibrillar Myopathy Presenting as Hypercapnia: A Case Report and Literature Review

Yan Xu1,Shixuan Liu2,Wenbing Xu1,Jinmei Luo1,Jingwen Niu3,Zhi Liu3,Jinming Gao1,Jinglan Wang1,Yi Dai3,*(),Mengzhao Wang1,*()   

  1. 1Department of Respiratory and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
    2Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
    3Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
  • Received:2021-01-25 Published:2021-12-31 Online:2022-01-06
  • Contact: Yi Dai,Mengzhao Wang E-mail:pumchdy@pumch.cn;mengzhaowang@sina.com

摘要:

目的 BAG3相关肌病是一种罕见疾病,目前在世界范围内仅报道20例患者。本研究旨在引起对这一罕见疾病的关注,以及强调将BAG3相关性肌病视为呼吸功能不全所致高碳酸血症的罕见鉴别诊断。
方法 报告一例14岁中国女性患者因BAG3 p.Pro209Leu新发突变所致肌原纤维性肌病病例,并回顾总结该基因缺陷所致病例文献报道。
结果 本文报道了一例14岁中国女性患者,临床表现为逐渐出现的高碳酸血症,需要无创通气辅助呼吸。依靠肌肉活检病理及外周血全外显子组检测,诊断为BAG3 p.Pro209Leu突变所致肌原纤维性肌病。结合本例患者及文献回顾,共有20个家庭的21例患者确诊为BAG3相关性肌病。男女比例为11:10,大多数患者在10岁以前就表现出临床症状。大多数患者首发症状为踮脚走路跑步或步态笨拙,其次是肌肉无力萎缩。14例患者血肌酸激酶水平升高,3例患者血肌酸激酶水平正常。18例患者在病程中出现呼吸功能不全,13例患者(1例患者不能耐受无创辅助通气)需要无创辅助通气治疗。除1例未报告外,17例患者在病程中出现心脏受累,7例患者接受了心脏移植。大多数患者的肌肉病理可以观察到Z-盘聚集现象。在长期随访中,5例患者死于心衰或呼吸衰竭。
结论 BAG3相关肌病为肌原纤维性肌病的罕见类型,应被视为高碳酸血症的罕见鉴别诊断。

关键词: 肌原纤维性肌病, BAG3, 呼吸功能不全, 高碳酸血症

Abstract:

Objective BAG3-related myopathy is a rare condition so far reported in twenty patients worldwide. The purpose of this study was to draw attention to this rare disease and to the fact that BAG3-related myopathy should be considered as a rare differential diagnosis of hypercapnia.
Methods We report a sporadic case of a 14-year-old Chinese girl with a de novo p.Pro209Leu mutation in BAG3 and reviewed the literatures for reported cases related to this mutation.
Results We described a 14-year-old Chinese girl who presented with gradually appearing symptoms of hypercapnia that required assisted ventilation. The muscle biopsy and the blood whole-exome sequencing results confirmed the diagnosis of myofibrillar myopathy with a de novo p.Pro209Leu mutation in BAG3. Totally twenty-one patients from twenty families with a confirmed diagnosis of BAG3-related myopathy were reported to date, including this patient and literature review. The male to female ratio was 11:10 and most showed initial symptoms in the first decade of life. Most patients presented toe/clumsy walking or running as the onset symptom, followed by muscle weakness or atrophy. Creatine kinase levels were elevated in fourteen patients and were normal in three. Eighteen patients developed respiratory insufficiency during the disease course and thirteen (one could not tolerate non-invasive assisted ventilation) required non-invasive assisted ventilation for treatment. Except for one not reported, heart involvement was found in seventeen patients during the disease course and seven underwent heart transplantation. Z-disk streaming and aggregation could be observed in most of the patients’ muscle histology. In the long-term follow-up, five patients died of cardiac or respiratory failure.
Conclusion BAG3-associated myopathy is a rare type of myofibrillar myopathy. It should be considered as a rare differential diagnosis of hypercapnia.

Key words: myofibrillar myopathy, BAG3, respiratory insufficiency, hypercapnia

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