The 15-year-old male came to the Second Hospital of Lanzhou University for "repeated cough and expectoration for 8 years". The patient began to have repeated cough and expectoration without obvious trigger at the age of 7, accompanied by repeated pus and bloody discharge. He was treated in the local hospital for symptomatic treatment many times, and the patient's cough and expectoration symptoms were repeated. The patient's parents were not consanguineous. Family history of chronic respiratory disease denied. High-resolution CT and three-dimensional reconstruction of the chest after admission showed that the proximal bronchiectasis of both lungs was accompanied by diffuse bronchial tree bud sign in both lungs, showing bronchiectasis and bronchiolitis (Figures 1 and 2). CT of paranasal sinuses showed: bilateral maxillary sinus and ethmoid sinus mucosa were thickened, and bilateral maxillary sinuses were filled with uneven density shadows, suggesting bilateral maxillary sinusitis and ethmoid sinusitis (shown by arrows, Figure 3). Pulmonary function tests showed: severe mixed pulmonary ventilatory dysfunction, negative bronchodilation test; There were no abnormalities in cardiac color Doppler ultrasound and abdominal color Doppler ultrasound; Chest CT and abdominal color Doppler ultrasound showed no visceral inversion; autoantibody negative; IgE negative; Bronchoscopy showed that a large amount of purulent secretion accumulated in the bilateral bronchial lumen, and no obvious abnormalities were found in the bronchial lumen and mucosa after microscopic aspiration. According to the onset age, clinical manifestations and auxiliary examination results of the patients, considering the primary ciliary dyskinesia disease, the whole exome sequencing of peripheral blood gene was performed with the consent of family members. Two mutations of CCNO gene were detected. The nucleotides (exons) were c.666 (exon3) del and c.258 (exon1) _c, respectively. The related disease was primary ciliary dyskinesia (PCD) type 29.
