Rubbo Bruna, Lucas Jane S
Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre, University of Southampton, Southampton, UK.
Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Eur Respir Rev. 2017 Sep 6;26(145). doi: 10.1183/16000617.0023-2017. Print 2017 Sep 30.
Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, "gold standard", diagnostic test. Management of patients is currently not based on high-level evidence because research findings are mostly derived from small observational studies with limited follow-up period. In this review, we provide a critical overview of the available literature on clinical care for PCD patients, including recent advances. We identify barriers to PCD research and make suggestions for overcoming challenges.
原发性纤毛运动障碍（PCD）是一种罕见的遗传性疾病，会影响纤毛的运动，导致黏液纤毛清除功能受损。据估计，绝大多数PCD患者尚未得到此类诊断，这为提供适当治疗带来了重大障碍。PCD诊断面临的挑战包括缺乏疾病特异性症状以及没有单一的“金标准”诊断测试。目前对患者的管理并非基于高级别证据，因为研究结果大多来自随访期有限的小型观察性研究。在本综述中，我们对有关PCD患者临床护理的现有文献进行了批判性概述，包括近期进展。我们确定了PCD研究的障碍，并提出了克服挑战的建议。
