RT Journal Article
SR Electronic
T1 What people with Down Syndrome can teach us about cardiopulmonary disease
JF European Respiratory Review
JO EUROPEAN RESPIRATORY REVIEW
FD European Respiratory Society
SP 160098
DO 10.1183/16000617.0098-2016
VO 26
IS 143
A1 Kelley L. Colvin
A1 Michael E. Yeager
YR 2017
UL http://err.ersjournals.com/content/26/143/160098.abstract
AB 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