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

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

作　　者：Yan Xu Shixuan Liu Wenbing Xu Jinmei Luo Jingwen Niu Zhi Liu Jinming Gao Jinglan Wang Yi Dai Mengzhao Wang 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(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;中国医学科学院,北京协和医学院北京协和医院内分泌科;中国医学科学院,北京协和医学院北京协和医院神经科)

机构地区：[1]Department of Respiratory and Critical Care Medicine,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China [2]Department of Endocrinology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China [3]Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China

出　　处：《Chinese Medical Sciences Journal》2021年第4期265-278,共14页中国医学科学杂志（英文版）

基　　金：supported by the Youth Program of National Natural Science Foundation of China(Grant No.82003309);the National Key Research and Development Program of China(Grant 2020YFB1313700)。

摘　　要：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.Pro209 Leu 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.Pro209 Leu mutation in BAG3.Totally twentyone 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：myofibrillar myopathy BAG3 respiratory insufficiency HYPERCAPNIA 

分 类 号：R542.22[医药卫生—心血管疾病]