原发性纤毛运动障碍患者的临床特征分析

目的:探讨原发性纤毛运动障碍(primary ciliary dyskinesia, PCD)患者的临床特征。方法:回顾性分析2009年1月至2020年12月复旦大学附属中山医院收治的20例PCD患者的临床特征,包括人口学资料、家族史、既往史、发病时主要症状、影像学资料、痰培养结果、肺通气功能及弥散功能检查结果、血气分析、男性患者精子活性检测结果、纤毛超微结构检查(透射电镜)结果。结果:20例PCD患者平均发病年龄(7.25±4.90)岁,平均确诊年龄(25.15±9.80)岁,以自幼反复咳嗽(19/20)、咳痰(19/20)为主要症状,部分患者有鼻窦炎(14/20)、中耳炎(5/20)症状,11例患者合并内脏转位。20例患者胸部CT均提示支气管扩张,18例患者鼻窦CT提示合并鼻窦炎。肺功能异常以阻塞性通气功能障碍为主(8/14)。5例接受精子活性检测的患者均存在不同程度的精子活动力下降。在透射电镜下,最常见的纤毛结构异常为外动力臂缺失(5/9)。结论:不合并内脏转位的PCD患者极易被漏诊,对于自幼起病,反复咳嗽咳痰,尤其是合并鼻窦炎、中耳炎的患者需进行PCD的筛查。电镜检查仍是目前国内确诊PCD的主要方法。

Clinical characteristics of primary ciliary dyskinesia

Objective: To explore the clinical characteristics of primary ciliary dyskinesia (PCD). Methods: 20 patients with PCD diagnosed in Zhongshan Hospital, Fudan University from January 2009 to December 2020 were retrospectively summarized. Their demographic data, family history, medical history, clinical symptoms, radiologic images, sputum culture, pulmonary function test, blood gas analysis, semen examination, and the electron microscopic findings of PCD were analyzed. Results: The mean onset age of the disease was (7.25±4.90) years, and the mean age at diagnosis was (25.15±9.80) years. The most common symptoms were recurrent cough (19/20) and expectoration (19/20) since childhood. Other symptoms included sinusitis (14/20) and otitis media (5/20). Eleven patients had situs inversus. All of the 20 patients had bronchiectasis on chest computed tomography (CT) scan, and most of the patients (18/20) had sinusitis on sinuses CT scan. Pulmonary function test indicated obstructive pattern was the most common disorder (8/14). The sperm motility was decreased in 5 cases. The most common structural abnormality of cilia under transmission electron microscopy was outer dynein arms deletion (5/9). Conclusions: PCD patients without situs inversus are easily missed, and PCD should be considered in patients with recurrent cough and expectoration since childhood, especially in patients with sinusitis and otitis media. Electron microscopic examination is still the main diagnostic method of PCD in China.