A rare case with compound heterozygous mutations of piezo-type mechanosensitive ion channel component 2(PIEZO2)induced tracheobronchomalacia  

作　　者：Juan Wu Lin Zhong Ting Chen Li Qiu Yi-Fei Li 

机构地区：[1]Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE,West China Second University Hospital,Sichuan University,Chengdu,Sichuan 610041,China [2]Department of Nursing,West China Second University Hospital,Sichuan University,Chengdu,Sichuan 610041,China [3]Department of Pediatrics,West China Second University Hospital,Sichuan University,Chengdu,Sichuan 610041,China

出　　处：《Chinese Medical Journal》2021年第10期1254-1256,共3页中华医学杂志（英文版）

基　　金：supported by a grant from the Technology Project of Sichuan Province(No.2020YFS0102)。

摘　　要：To the Editor:Tracheobronchomalacia(TBM)is a type of disorder that is caused by malformation of cartilage;the malformation leads to a deformity of the trachea or bronchus,with a cross-sectional reduction of≥50%during exhalation,due to primary or secondary reasons.[1]The severity of TBM depends on the anatomical changes of airways,which are described as mild(50%-75%reduction),moderate(75%-90%reduction),and severe(>90%reduction).[2]According to previous studies,a set of causes have been identified to be associated with TBM.[3]Congenital airway malacia can be a part of many rare syndromes,[4]including chromosomal defect syndromes,de novo genetic mutations,mucopolysaccharidoses,and inherited connective tissue disorders.In addition,some conditions,such as tracheoesophageal fistula,vascular rings,malformation of the cardiovascular system,vitamin D deficiency,and recurrent infections,are revealed as the secondary reasons for TBM.Therefore,for TBM patients,it is important to distinguish the etiologies of TBM,which help to guide therapeutic and nursing strategies.

关 键 词：RARE TBM ACCORD 

分 类 号：R562[医药卫生—呼吸系统]