What people with Down Syndrome can teach us about cardiopulmonary disease.
What people with Down Syndrome can teach us about cardiopulmonary disease.
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DOI：
10.1183/16000617.0098-2016
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发表时间：
2017-01
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--
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唐氏综合症是活产婴儿中最常见的染色体异常。通过21号染色体的全部或部分三体，唐氏综合征与认知障碍、先天性畸形（特别是心血管）和畸形特征相关。唐氏综合征的免疫紊乱造成了巨大的疾病负担，从生活质量问题（自身免疫性脱发）到更严重的健康问题（自身免疫性甲状腺炎）和危及生命的问题（白血病，呼吸道感染和肺动脉高压）。心血管和肺部疾病占唐氏综合征患者死亡率的75%。本文综述了唐氏综合征患者所面临的心血管、呼吸和免疫挑战，以及其病理学的遗传基础。我们强烈主张增加对患有和不患有唐氏综合症的人的心肺疾病的比较研究，因为我们相信这些研究将导致预防和治疗影响全球数百万人的疾病的新战略。这篇评论总结了唐氏综合症患者面临的心肺和免疫挑战http://ow.ly/tlGU306iMkG
Down syndrome is the most common chromosomal abnormality among live-born infants. Through full or partial trisomy of chromosome 21, Down syndrome is associated with cognitive impairment, congenital malformations (particularly cardiovascular) and dysmorphic features. Immune disturbances in Down syndrome account for an enormous disease burden ranging from quality-of-life issues (autoimmune alopecia) to more serious health issues (autoimmune thyroiditis) and life-threatening issues (leukaemia, respiratory tract infections and pulmonary hypertension). Cardiovascular and pulmonary diseases account for ∼75% of the mortality seen in persons with Down syndrome. This review summarises the cardiovascular, respiratory and immune challenges faced by individuals with Down syndrome, and the genetic underpinnings of their pathobiology. We strongly advocate increased comparative studies of cardiopulmonary disease in persons with and without Down syndrome, as we believe these will lead to new strategies to prevent and treat diseases affecting millions of people worldwide. This review summarises the cardiopulmonary and immune challenges faced by individuals with Down syndrome http://ow.ly/tlGU306iMkG
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影响因子：
24.3
作者：
Bruijn, Martijn;Lutter, Rene;van Woensel, Job B. M.
通讯作者：
van Woensel, Job B. M.
影响因子：
3.5
作者：
Baxter, LL;Moran, TH;Reeves, RH
通讯作者：
Reeves, RH
影响因子：
9.8
作者：
Ackerman, Christine;Locke, Adam E.;Maslen, Cheryl L.
通讯作者：
Maslen, Cheryl L.
影响因子：
3.1
作者：
Agiovlasitis, Stamatis;Baynard, Tracy;Fernhall, Bo
通讯作者：
Fernhall, Bo
影响因子：
5.3
作者：
Baptista, MJ;Fairbrother, UL;Kessling, AM
通讯作者：
Kessling, AM