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; 刘诗璇; 许文兵; 罗金梅; 牛静雯; 刘智; 高金明; 王京岚; 戴毅; 王孟昭

doi:10.24920/003883

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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

中国医学科学杂志（英文版） 2021年36卷第4期页码：265-278

Original Articles | Updated：2024-04-10

- 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
- Affiliations：
  
  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
  2. 2Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
  3. 3Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
- Author bio：
  
  *Yi Dai, pumchdy@pumch.cn;
  Mengzhao Wang, mengzhaowang@sina.com
- Funds：
  
  Youth Program of National Natural Science Foundation of China(Grant No. 82003309);National Key Research and Development Program of China(2020YFB1313700)
- DOI：10.24920/003883
  中图分类号：
- 收稿日期：2021-01-25，
  
  网络出版日期：2021-10-09，
  
  纸质出版日期：2021-12-31
- Accepted：
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徐燕, 刘诗璇, 许文兵, 等. 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[J]. 中国医学科学杂志（英文版）, 2021,36(4):265-278.

Xu Yan, Liu Shixuan, Xu Wenbing, et al. BAG3-Related Myofibrillar Myopathy Presenting as Hypercapnia: A Case Report and Literature Review[J]. Chinese medical sciences journal, 2021, 36(4): 265-278.
徐燕, 刘诗璇, 许文兵, 等. 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[J]. 中国医学科学杂志（英文版）, 2021,36(4):265-278. DOI： 10.24920/003883.

Xu Yan, Liu Shixuan, Xu Wenbing, et al. BAG3-Related Myofibrillar Myopathy Presenting as Hypercapnia: A Case Report and Literature Review[J]. Chinese medical sciences journal, 2021, 36(4): 265-278. DOI： 10.24920/003883.

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

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.

关键词

Keywords

references

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