Alexandru Mihaela, de Boissieu Paul, Benoudiba Farida, Moustarhfir Malik, Kim Sookyung, Bequignon Émilie, Honoré Isabelle, Garcia Gilles, Mitri-Frangieh Rana, Legendre Marie, Crestani Bruno, Taillé Camille, Escudier Estelle, Maitre Bernard, Papon Jean-François, Nevoux Jérôme
ENT Department, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Saclay University, 94270 Le Kremlin-Bicêtre, France.
Epidemiology and Public Health Department, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Saclay University, 94270 Le Kremlin-Bicêtre, France.
J Clin Med. 2022 Aug 31;11(17):5163. doi: 10.3390/jcm11175163.
Primary ciliary dyskinesia (PCD) is a rare genetical disease characterized by an abnormal structure or function of the cilia, causing sinusitis, otitis, and bronchiectasis. Hearing loss affects 60% of PCD patients, but data are lacking concerning hearing and temporal bone imaging in adults. Our aim was to describe clinical and radiological ear disease in adults with genetically confirmed PCD. Data were recorded from January 2018 to December 2019. PCD patients were compared with controls with bronchiectasis without PCD. Clinical examination included otomicroscopy and auditory tests. A temporal bone CT scan (TBCT) was systematically performed. Seventeen patients (34 ears) were included in each group. The eardrums were abnormal in 25 (74%) PCD ears versus 8 (24%) ears in the controls (p < 0.05). Conductive hearing loss was more frequent in the PCD group (24% vs. 12% in controls). TBCT were abnormal in 94% PCD patients vs. 32% in the controls (p < 0.05). The Main CT-scan images in PCD were middle ear inflammation (65%), mastoid condensation (62%), or ossicular anomalies (35%). With its excellent sensitivity, TBCT gives typical arguments for PCD diagnosis, adding otological signs to the usual sinus CT signs (hypoplasia, aplasia). Systematic TBCT could be useful in the initial evaluation of patients with suspicion of PCD.
原发性纤毛运动障碍（PCD）是一种罕见的遗传性疾病，其特征为纤毛结构或功能异常，可导致鼻窦炎、中耳炎和支气管扩张。60%的PCD患者存在听力损失，但关于成人听力及颞骨影像学方面的数据尚缺。我们的目的是描述基因确诊的成年PCD患者的临床及耳部影像学疾病情况。数据记录时间为2018年1月至2019年12月。将PCD患者与无PCD的支气管扩张症对照者进行比较。临床检查包括耳显微镜检查和听力测试。系统性地进行颞骨CT扫描（TBCT）。每组纳入17例患者（34耳）。PCD组25耳（74%）鼓膜异常，而对照组为8耳（24%）（p<0.05）。PCD组传导性听力损失更为常见（24% vs. 对照组的12%）。94%的PCD患者TBCT异常，而对照组为32%（p<0.05）。PCD患者主要的CT扫描影像表现为中耳炎症（65%）、乳突致密化（62%）或听小骨异常（35%）。TBCT具有出色的敏感性，可为PCD诊断提供典型依据，在常见的鼻窦CT征象（发育不全、未发育）基础上增加耳科体征。系统性TBCT对疑似PCD患者的初始评估可能有用。
