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Updated: May 16, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Nasal nitric oxide combined with clinical features for preliminary screening of primary ciliary dyskinesia in
Shunlian Hu1,2,3,4, Xiyue Shen1,2,4, Jiayi Wang2,3,4
1Department of Respiratory and Critical Care Medicine, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.
Rationale:
Primary ciliary dyskinesia (PCD), an underdiagnosed genetic disorder characterised by dysfunctional cilia, is a known cause of bronchiectasis.
Objectives:
To prospectively identify PCD among patients with bronchiectasis using nasal nitric oxide (nNO) and clinical features, and to characterise genetic features.
Methods:
This cross-sectional study enrolled adolescent and adult patients with bronchiectasis from the BE-China registry at Shanghai Pulmonary Hospital. Individuals with either strong clinical suspicion or nNO ≤77 nL·min-1 received a structured diagnostic work-up, including transmission electron microscopy and whole-exome sequencing. Diagnoses followed the 2025 European Respiratory Society/American Thoracic Society PCD diagnostic guidelines.
Results:
Among 373 patients with bronchiectasis, 27 (7.4%) were in the PCD group (14 "confirmed PCD" and 13 "PCD highly likely"). nNO showed high screening accuracy (sensitivity 84.8%, specificity 97.1%). Patients with PCD were younger and had earlier bronchiectasis onset. Age-adjusted regression analysis showed independent associations between PCD and lower body mass index (regression coefficient (RC) -1.5, 95% CI -2.9 to -0.1), forced expiratory volume in 1 s (FEV1) % predicted (RC -18.4, 95% CI -28.3 to -8.6), forced vital capacity (FVC) % predicted (RC -11.3, 95% CI -19.5 to -3.0), and FEV1/FVC (RC -10.3, 95% CI -16.9 to -3.8). Strong associations were observed with rhinosinusitis (OR 25.3, 95% CI 8.8 to 92.1) and Pseudomonas aeruginosa infection (OR 8.5, 95% CI 3.2 to 25.7). Situs inversus occurred in 25.9% of patients with PCD. DNAH11 was the most common pathogenic gene.
Conclusions:
Patients with PCD had more severe disease, reinforcing the need for structured screening in patients with bronchiectasis. nNO combined with clinical features is an effective and reliable screening strategy for PCD in bronchiectasis.
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