Demographics and clinical characteristics of participants in the primary ciliary dyskinesia (PCD) cohort, i.e. those with definite diagnosis of PCD based on transmission electron microscopy and/or genetic testing
| Clinical variables | Clinical outcomes |
| Age at diagnosis | Median 10.0 years; range 3 months–40.0 years |
| Female | 27 (39.7%) |
| Situs inversus | 29 (42.6%) |
| Consanguinity (n=60) | 65 (92.6%) |
| Congenital heart disease# (n=67) | 8 (11.9%) |
| Neonatal respiratory symptoms (n=67) | 57 (85.1%) |
| Persistent wet cough | 57 (83.8%) |
| Persistent rhinosinusitis | 64 (94.1%) |
| Conductive hearing loss and/or otitis media with effusion (glue ear) | 50 (73.5%) |
| Finger clubbing (n=67) | 13 (19.4%) |
| nNO (nL·min−1) (n=36) | Median 14.5; range 5–62.5 |
| FEV1 z-score (n=28) | Median −1.90 (−5.0–1.32) |
| FVC z-score (n=28) | Median −1.72 (−5.64–0.57) |
| BMI z-score n=28 | Median −0.36 (−3.03–2.57) |
n=68 unless otherwise stated. BMI: body mass index; FEV1: forced expiratory volume in 1 s; FVC: forced vital capacity; nNO: nasal nitric oxide.
#Atrial septal defect n=2; right isomerism with complex cardiac defects n=1; situs ambiguous with complex cardiac defects n=1; subaortic membrane n=1; ventricular septal defect n=3.