原发性纤毛运动障碍

Michael Glenn O’Connor MD , Ricardo Mosquera MD , Hilda Metjian MD , Meghan Marmor MD , Kenneth N. Olivier MD, MPH , Adam J. Shapiro MD
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引用次数: 1

摘要

原发性纤毛运动障碍(PCD)是一种罕见但诊断不足的疾病,影响全身活动纤毛功能。随着不断进行的基因发现使PCD的患病率不断增加,当使用当前的诊断标准进行适当调查时,PCD是大量慢性化脓性肺病和支气管扩张症患者疾病过程的基础。典型的PCD症状包括慢性鼻窦炎和中耳炎、器官偏侧缺陷、不孕、全年生产性咳嗽和复发性肺炎伴支气管扩张。PCD的临床症状在生命早期就表现出来(通常在出生时),尽管由于表型识别能力差和专业诊断测试的机会有限,诊断经常被推迟。在过去的十年中,PCD研究网络已经建立了特定的PCD表型,以提高临床认可度,各种商业实验室中PCD基因面板的可用性大大扩大了获得准确PCD诊断的机会。还制定了临床实践指南,以指导这种罕见但日益被认可的化脓性呼吸道疾病的诊断和管理。PCD比以前认为的更常见,并且可以通过儿童和成人的特定临床表型来识别。在高度专业化的中心之外进行诊断性PCD测试可能很困难,但鼻一氧化氮测量和商业基因小组的可用性增加,现在无论中心的专业知识如何,都可以进行无创筛查和最终诊断。全世界都需要识别准确诊断的PCD患者,以进行未来的临床试验并开发PCD的疾病特异性疗法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare but underdiagnosed disorder that affects motile cilia function throughout the body. With increasing prevalence through ongoing genetic discovery, PCD underlies the disease process in a significant number of patients with chronic suppurative lung disease and bronchiectasis when properly investigated using current diagnostic standards. Classic PCD symptoms include chronic rhinosinusitis and otitis, organ laterality defects, infertility, year-round productive cough, and recurrent pneumonias with bronchiectasis. Clinical symptoms of PCD manifest very early in life (often at birth), although diagnosis frequently is delayed because of poor phenotypic recognition and limited access to specialized diagnostic testing. In the past decade, PCD research networks have established specific PCD phenotypes to increase clinical recognition, and the availability of PCD genetic panels in various commercial laboratories has expanded access to an accurate PCD diagnosis greatly. Clinical practice guidelines also were created to guide diagnosis and management of this rare but increasingly recognized suppurative respiratory disease. PCD is more common than previously thought and can be recognized through specific clinical phenotypes in both children and adults. Diagnostic PCD testing outside of highly specialized centers can be difficult, but increased availability of nasal nitric oxide measurement and commercial genetic panels now allows for noninvasive screening and definitive diagnosis regardless of center expertise. Identification of patients with accurately diagnosed PCD is needed worldwide to populate future clinical trials and to develop disease-specific therapies for PCD.

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