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21三体综合征中的气管狭窄与先天性心脏病

Tracheal Stenosis and Congenital Heart Disease in Trisomy 21.

作者信息

Kylat Ranjit I

机构信息

Department of Pediatrics, University of Arizona, College of Medicine, Tucson, AZ 85724, USA.

出版信息

Children (Basel). 2019 Sep 4;6(9):98. doi: 10.3390/children6090098.

DOI:10.3390/children6090098
PMID:31487969
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6769800/
Abstract

Tracheal rings (TR) are rare, congenital cartilaginous defect of the upper airway and are usually due to complete or near complete circumferential cartilaginous tracheal rings, with variable degrees of tracheal stenosis (TS) and shortening. Chromosomal anomalies like trisomy 21 are characteristically associated with a wide range of upper airway anomalies including TS and congenital heart disease (CHD). However, the overall prevalence of severe forms of TS is rare and reported in 1.2% of all CHD patients. Herein, we present a rare association of severe TS due to complete tracheal rings in a trisomy 21 patient with CHD and the challenges in the management.

摘要

气管环(TR)是一种罕见的上呼吸道先天性软骨缺损,通常是由于气管软骨环完全或近乎完全呈环状,伴有不同程度的气管狭窄(TS)和气管缩短。像21三体综合征这样的染色体异常通常与包括气管狭窄和先天性心脏病(CHD)在内的多种上呼吸道异常有关。然而,严重形式的气管狭窄总体患病率很低,在所有先天性心脏病患者中报告的比例为1.2%。在此,我们报告了一例患有先天性心脏病的21三体综合征患者因完全性气管环导致严重气管狭窄的罕见病例以及治疗中面临的挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a31/6769800/c32aab45c57e/children-06-00098-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a31/6769800/c32aab45c57e/children-06-00098-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a31/6769800/c32aab45c57e/children-06-00098-g001.jpg

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本文引用的文献

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2
Complete Tracheal Ring Deformity. A Translational Genomics Approach to Pathogenesis.完全性气管环畸形。发病机制的转化基因组学方法。
Am J Respir Crit Care Med. 2019 Nov 15;200(10):1267-1281. doi: 10.1164/rccm.201809-1626OC.
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Pitfalls in the management of congenital tracheal stenosis: is conservative management feasible?先天性气管狭窄管理中的陷阱:保守治疗可行吗?
Pediatr Pulmonol. 2021 May;56(5):814-822. doi: 10.1002/ppul.25203. Epub 2021 Jan 12.
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Diagnostic Accuracy of Three-dimensional Turbo Field Echo Magnetic Resonance Imaging Sequence in Pediatric Tracheobronchial Anomalies with Congenital Heart Disease.三维涡轮场回波磁共振成像序列在小儿先天性心脏病合并气管支气管异常中的诊断准确性
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Congenital tracheobronchial stenosis.先天性气管支气管狭窄
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