Service ORL-CCF, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, avenue Molière, 67098 Strasbourg cedex, France; Service de Pneumologie et d'Allergologie, NHC, Hôpitaux Universitaires de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg cedex, France.
Institut d'Histologie, Faculté de Médecine de l'Université de Strasbourg, 4 rue Kirchleger, 67085 Strasbourg Cedex, France.
Eur Ann Otorhinolaryngol Head Neck Dis. 2017 Dec;134(6):377-382. doi: 10.1016/j.anorl.2017.04.001. Epub 2017 May 11.
Primary ciliary dyskinesia (PCD) is a rare congenital disorder involving permanent ubiquitous structural and/or functional ciliary abnormalities.
A single-center retrospective study included 56 cases of PCD (respiratory form) out of a cohort of 280 patients with suspected PCD. The main features of history-taking and clinical examination were analyzed, to formulate a pragmatic diagnostic procedure, easy to implement in clinical practice.
Chronic respiratory tract infectious symptoms are sensitive but non-specific for the diagnosis of PCD. Nasal brushing for phase-contrast microscopy study of ciliary morphology and activity proved to be a fast, easy, non-invasive, cost-effective and age-independent diagnostic method. In doubtful cases, depending on local availability, further tests are indicated: nasal nitric oxide level, electronic microscopy, genetic study and cell culture.
In suspected PCD, there being no gold standard method of screening and early diagnosis, nasal brushing with ciliary study is contributive, alongside numerous other complementary tests, on condition that the clinician is experienced and results are interpreted in the light of clinical examination and history-taking.
原发性纤毛运动障碍（PCD）是一种罕见的先天性疾病，涉及永久性的、普遍存在的纤毛结构和/或功能异常。
单中心回顾性研究纳入了 280 例疑似 PCD 患者中的 56 例（呼吸型）PCD 病例。分析了病史采集和临床检查的主要特征，制定了一种实用的诊断程序，易于在临床实践中实施。
慢性呼吸道感染症状对 PCD 的诊断具有敏感性，但特异性不强。鼻刷用于研究纤毛形态和功能的相位对比显微镜检查已被证明是一种快速、简便、非侵入性、具有成本效益且与年龄无关的诊断方法。在可疑病例中，根据当地的实际情况，需要进一步检查：鼻一氧化氮水平、电子显微镜、基因研究和细胞培养。
在疑似 PCD 中，由于缺乏筛选和早期诊断的金标准方法，鼻刷纤毛研究是有帮助的，同时还需要许多其他的补充检查，前提是临床医生有经验，并根据临床检查和病史采集来解释结果。
