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.