Cambridge Centre for Lung infection, Papworth Hospital NHS Trust, Papworth Everard, Cambridge, CB23 3RE, United Kingdom.
Pediatric Respiratory Medicine, Montreal Children's Hospital, McGill University, 1001 Decarie Blvd - BRC.5016, Montreal, Quebec, Canada, H4A 3J1.
Paediatr Respir Rev. 2016 Mar;18:25-32. doi: 10.1016/j.prrv.2015.09.003. Epub 2015 Sep 26.
Through the better understanding of the genetics and clinical associations of Primary Ciliary Dyskinesia (PCD), an autosomal recessive disorder of ciliary motility and mucociliary clearance, the association between PCD and heterotaxic congenital heart disease (CHD) has been established. In parallel, research into the cause of CHD has elucidated further the role of ciliary function on the development of normal cardiovascular structure. Increased awareness by clinicians regarding this elevated risk of PCD in patients with CHD will allow for more comprehensive screening and identification of cases in this high-risk group with earlier diagnosis leading to improved health outcomes.
通过更好地了解原发性纤毛运动障碍（PCD）的遗传学和临床关联，这种纤毛运动和黏液纤毛清除的常染色体隐性疾病，已经确定了 PCD 与异位先天性心脏病（CHD）之间的关联。同时，对 CHD 病因的研究进一步阐明了纤毛功能在正常心血管结构发育中的作用。临床医生对 CHD 患者 PCD 风险增加的认识提高，将使更多的患者能够进行更全面的筛查和识别，早期诊断将改善患者的健康结局。
