Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Sydney Medical School, University of Sydney, NSW, Australia.
Pediatric Respiratory Medicine, Montreal Children's Hospital, McGill University, 1001 Decarie Blvd - BRC.5016, Montreal, Quebec, Canada, H4A 3J1.
Paediatr Respir Rev. 2016 Mar;18:3-7. doi: 10.1016/j.prrv.2015.11.006. Epub 2015 Nov 23.
Primary ciliary dyskinesia [PCD] is an uncommon, autosomal recessively inherited condition that is often overlooked and undertreated in childhood. Amidst the myriad of children with coloured nasal secretions, otitis media and a wet cough, there exists a subset with PCD as the underlying unifying diagnosis. In this paper we have highlighted the varying clinical manifestations of PCD, emphasising different presentations between neonates, toddlers, school aged children and adults.
原发性纤毛运动障碍(PCD)是一种不常见的常染色体隐性遗传疾病,在儿童期常被忽视和治疗不足。在众多有色鼻涕、中耳炎和湿性咳嗽的儿童中,存在一部分儿童是作为潜在统一诊断的 PCD。在本文中,我们强调了 PCD 的不同临床表现,重点介绍了新生儿、幼儿、学龄儿童和成人之间不同的表现。