Primary Ciliary Dyskinesia Centre, Southampton NIHR Respiratory Biomedical Research Unit, University Hospital Southampton NHS Foundation Trust, Southampton, UK; Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK.
Leeds Children's Hospital, Leeds, UK.
Paediatr Respir Rev. 2014 Jun;15(2):142-5. doi: 10.1016/j.prrv.2013.04.007. Epub 2013 Jun 12.
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease associated with bronchiectasis, chronic rhinosinusitis, infertility and situs inversus. Estimates of prevalence vary widely, but is probably between 1:10,000- 1:40,000 in most populations. A number of observational studies indicate that access to services to diagnose and manage patients with PCD vary both between and within countries. Diagnosis is often delayed and frequently missed completely. The prognosis of patients with PCD is variable, but evidence suggests that it is improved by early diagnosis and specialist care. This article briefly reviews the literature concerning PCD and the evidence that specialist care will improve healthcare outcomes. The article specifically refers to a new national service in the UK.
原发性纤毛运动障碍（PCD）是一种常染色体隐性遗传疾病，与支气管扩张、慢性鼻-鼻窦炎、不孕和内脏转位有关。患病率的估计差异很大，但在大多数人群中可能在 1:10000-1:40000 之间。许多观察性研究表明，诊断和管理 PCD 患者的服务在国家之间和国家内部存在差异。诊断通常被延迟，而且经常完全被遗漏。PCD 患者的预后各不相同，但有证据表明，早期诊断和专业护理可改善预后。本文简要回顾了有关 PCD 的文献以及专业护理将改善医疗保健结果的证据。本文特别提到了英国的一项新的国家服务。
