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Lung disease manifestations in Down Syndrome
American Journal of Physiology-Lung Cellular and Molecular Physiology ( IF 4.9 ) Pub Date : 2021-09-01 , DOI: 10.1152/ajplung.00434.2020
Soula Danopoulos 1 , Gail H Deutsch 2 , Claire Dumortier 1 , Thomas J Mariani 3 , Denise Al Alam 1
Affiliation  

Down Syndrome (DS) is one of the most prevalent chromosomal abnormalities world-wide, affecting 1 in 700 live births. Although multiple organ systems are affected by the chromosomal defects, respiratory failure and lung disease are the leading causes of morbidity and mortality observed in DS. Manifestations of DS in the respiratory system encompass the entire lung starting from the nasopharynx, trachea/upper airways to the lower airways and alveolar spaces, as well as vascular and lymphatic defects. Most of our knowledge on respiratory illness in persons with DS arises from pediatric studies, however many of these disorders present early in infancy supporting developmental mechanisms. In this review we will focus on the different lung phenotypes in DS, as well as the genetic and molecular pathways that may be contributing to these complications during development.

中文翻译:

唐氏综合症的肺部疾病表现

唐氏综合症 (DS) 是全世界最普遍的染色体异常之一,每 700 名活产婴儿中就有 1 名受到影响。尽管多器官系统受到染色体缺陷的影响,但呼吸衰竭和肺病是 DS 中观察到的发病率和死亡率的主要原因。DS 在呼吸系统中的表现包括从鼻咽、气管/上气道到下气道和肺泡空间的整个肺,以及血管和淋巴缺陷。我们对 DS 患者呼吸系统疾病的大部分知识来自儿科研究,然而,这些疾病中的许多在婴儿早期就存在,支持发育机制。在这篇综述中,我们将重点关注 DS 的不同肺表型,
更新日期:2021-09-02
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