Contarini Martina, Shoemark Amelia, Rademacher Jessica, Finch Simon, Gramegna Andrea, Gaffuri Michele, Roncoroni Luca, Seia Manuela, Ringshausen Felix C, Welte Tobias, Blasi Francesco, Aliberti Stefano, Chalmers James D
Department of Pathophysiology and Transplantation, University of Milan, Internal Medicine Department, Respiratory unit and Adult Cystic Fibrosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.
Division of Molecular and Clinical Medicine, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK.
Multidiscip Respir Med. 2018 Aug 9;13(Suppl 1):26. doi: 10.1186/s40248-018-0143-6. eCollection 2018.
Bronchiectasis represents the final pathway of several infectious, genetic, immunologic or allergic disorders. Accurate and prompt identification of the underlying cause is a key recommendation of several international guidelines, in order to tailor treatment appropriately. Primary ciliary dyskinesia (PCD) is a genetic cause of bronchiectasis in which failure of motile cilia leads to poor mucociliary clearance. Due to poor ciliary function in other organs, individuals can suffer from chronic rhinosinusitis, otitis media and infertility. This paper explores the current literature describing why, when and how to investigate PCD in adult patients with bronchiectasis. We describe the main PCD diagnostic tests and compare the two international PCD diagnostic guidelines. The expensive multi-test diagnostic approach requiring a high level of expertise and specialist equipment, make the multifaceted PCD diagnostic pathway complex. Therefore, the risk of late or missed diagnosis is high and has clinical and research implications. Defining the number of patients with bronchiectasis due to PCD is complex. To date, few studies outlining the aetiology of adult patients with bronchiectasis conduct screening tests for PCD, but they do differ in their diagnostic approach. Comparison of these studies reveals an estimated PCD prevalence of 1-13% in adults with bronchiectasis and describe patients as younger than their counterparts with moderate impairment of lung function and higher rates of chronic infection with . Diagnosing PCD has clinical, socioeconomic and psychological implications, which affect patients' life, including the possibility to have a specific and multidisciplinary team approach in a PCD referral centre, as well as a genetic and fertility counselling and special legal aspects in some countries. To date no specific treatments for PCD have been approved, standardized diagnostic protocols for PCD and recent diagnostic guidelines will be helpful to accurately define a population on which planning RCT studies to evaluate efficacy, safety and accuracy of PCD specific treatments.
支气管扩张是多种感染性、遗传性、免疫性或过敏性疾病的最终转归。准确、及时地识别潜在病因是多项国际指南的关键建议，以便进行适当的治疗。原发性纤毛运动障碍（PCD）是支气管扩张的一种遗传病因，其中运动性纤毛功能障碍导致黏液纤毛清除功能不良。由于其他器官的纤毛功能不佳，个体可能患有慢性鼻窦炎、中耳炎和不孕症。本文探讨了当前描述为何、何时以及如何对成年支气管扩张患者进行PCD检查的文献。我们描述了主要的PCD诊断测试，并比较了两项国际PCD诊断指南。昂贵的多测试诊断方法需要高水平的专业知识和专业设备，使得多方面的PCD诊断途径变得复杂。因此，诊断延迟或漏诊的风险很高，并且具有临床和研究意义。确定PCD所致支气管扩张患者的数量很复杂。迄今为止，很少有概述成年支气管扩张患者病因的研究对PCD进行筛查测试，但它们的诊断方法确实有所不同。这些研究的比较显示，成年支气管扩张患者中PCD的患病率估计为1%-13%，并且描述这些患者比肺功能中度受损的同龄人更年轻，慢性感染率更高。诊断PCD具有临床、社会经济和心理影响，会影响患者的生活，包括在PCD转诊中心采用特定的多学科团队方法的可能性，以及在一些国家进行遗传和生育咨询以及特殊的法律方面。迄今为止，尚未批准针对PCD的特异性治疗方法，PCD的标准化诊断方案和最新诊断指南将有助于准确界定一个群体，以便在此基础上规划随机对照试验研究，以评估PCD特异性治疗的疗效、安全性和准确性。
