Colvin Kelley L, Yeager Michael E
Dept of Bioengineering, University of Colorado Denver, Aurora, CO, USA.
Linda Crnic Institute for Down Syndrome, University of Colorado Denver, Aurora, CO, USA.
Eur Respir Rev. 2017 Feb 21;26(143). doi: 10.1183/16000617.0098-2016. Print 2017 Jan.
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.
唐氏综合征是活产婴儿中最常见的染色体异常疾病。通过21号染色体的全部或部分三体化，唐氏综合征与认知障碍、先天性畸形（尤其是心血管畸形）及畸形特征相关。唐氏综合征中的免疫紊乱导致了巨大的疾病负担，范围从生活质量问题（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）以及危及生命的问题（白血病、呼吸道感染和肺动脉高压）。心血管和肺部疾病约占唐氏综合征患者死亡率的75%。本综述总结了唐氏综合征患者面临的心血管、呼吸和免疫挑战，以及其病理生物学的遗传基础。我们强烈主张增加对有或没有唐氏综合征的人群进行心肺疾病的比较研究，因为我们相信这些研究将带来预防和治疗影响全球数百万人疾病的新策略。
