Dunsky Katherine, Menezes Maithilee, Ferkol Thomas W
Department of Otolaryngology-Head and Neck Surgery, Washington University School of Medicine in St Louis, St Louis, Missouri.
Department of Pediatrics, Washington University School of Medicine in St Louis, St Louis, Missouri.
JAMA Otolaryngol Head Neck Surg. 2021 Jun 17. doi: 10.1001/jamaoto.2021.0934.
Primary ciliary dyskinesia (PCD) is a rare, inherited condition involving motile cilia that line the upper and lower respiratory tracts, leading to chronic infections of the paranasal sinuses, middle ear, and bronchi that begin during infancy. Unfortunately, despite its early presentation, PCD is often recognized late.
People with PCD have diverse clinical manifestations, including chronic upper and lower respiratory tract disease, laterality defects, and subfertility. Through efforts of multinational clinical collaboratives, 4 cardinal features have been described that identify people who likely have PCD: unexplained neonatal respiratory distress, left-right laterality defects, daily wet cough, and nonseasonal rhinosinusitis beginning before 6 months of age. Recent advances in the understanding of the genetics and pathogenesis of the disease have led to a revolution in the approach to screening and diagnostic testing. Moreover, PCD has a broad clinical spectrum, and genotype-phenotype associations are beginning to be recognized.
A high index of suspicion remains critical in diagnosing PCD. Children who have at least 2 of the major clinical features should be considered for further evaluation. Nevertheless, while newer tools have improved diagnostic capabilities, there is no single test that will diagnose every person with the disease. In people suspected of having PCD, nasal nitric oxide measurement is a useful screen, followed by diagnostic genetic testing and if negative, ciliary ultrastructural analysis. Despite otolaryngologic manifestations being common in infancy and persisting into adulthood, they have been understudied. Indeed, there are few randomized clinical trials examining the medicosurgical approaches to respiratory disease.
原发性纤毛运动障碍（PCD）是一种罕见的遗传性疾病，涉及上、下呼吸道的运动性纤毛，导致婴儿期开始的鼻窦、中耳和支气管慢性感染。不幸的是，尽管其发病较早，但PCD往往在后期才被识别。
PCD患者有多种临床表现，包括慢性上、下呼吸道疾病、左右不对称缺陷和生育力低下。通过多国临床协作的努力，已描述了4种主要特征，可用于识别可能患有PCD的人：不明原因的新生儿呼吸窘迫、左右不对称缺陷、每日湿性咳嗽以及6个月龄前开始的非季节性鼻窦炎。对该疾病遗传学和发病机制认识的最新进展引发了筛查和诊断检测方法的变革。此外，PCD具有广泛的临床谱，基因型-表型关联开始得到认识。
在诊断PCD时，高度的怀疑指数仍然至关重要。具有至少2种主要临床特征的儿童应考虑进一步评估。然而，虽然新工具提高了诊断能力，但没有单一的检测方法能诊断所有患有该疾病的人。对于疑似患有PCD的人，鼻一氧化氮测量是一种有用的筛查方法，随后进行诊断性基因检测，若结果为阴性，则进行纤毛超微结构分析。尽管耳鼻喉科表现在婴儿期很常见并持续至成年期，但对其研究不足。实际上，很少有随机临床试验研究针对呼吸道疾病的药物和手术治疗方法。
