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 variablesClinical outcomes
Age at diagnosisMedian 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 cough57 (83.8%)
Persistent rhinosinusitis64 (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=28Median −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.