TABLE 1

General characteristics of adult primary ciliary dyskinesia patients

Total patients151
Age in 2014 years35 (19–75; 26–47)
Male n (%)58 (38.4)
Age at diagnosis years23.5 (<1–72; 10–36)
Smokers n (%)12 (8.0)
Length of follow-up years7 (1–34; 3–13)
All-cause mortality n (%)7 (4.6)
Respiratory cause mortality n (%)5 (3.3)
Nasal nitric oxide
 Patients analysed97
 ppb42.0 (5.0–229.0; 23.0–70.0)
 nL·min−110.5 (1.3–57.3; 5.8–17.5)
Ciliary beat frequency
 Patients analysed144
 Hz0 (0–16.85)#
 ≥8 Hz %80.7
 >8 Hz %19.3
Ciliary TEM ultrastructure n (%)
 Patients analysed141
 Inner and outer dynein arm defect36 (25.5)
 Outer dynein arm defect56 (39.7)
 Inner dynein arm defect3 (2.1)
 Inner dynein arm defect with microtubular disorganisation14 (9.9)
 Central pair and transposition defect13 (9.2)
 Normal ciliary ultrastructure16 (11.3)
 Inconclusive3 (2.1)
Ciliary TEM ultrastructure groups n (%)
 Patients analysed138
 Outer arm±inner arm defect92 (66.7)
 Microtubular defects27 (19.6)
 Normal/inconclusive19 (13.8)
Situs inversus n (%)
 Patients analysed144
 With situs inversus55 (38.2)
  Inner and outer dynein arm defect16 (29.1)
  Outer dynein arm defect27 (49.1)
  Inner dynein arm defect1 (1.8)
  Inner dynein arm defect with microtubular disorganisation4 (7.3)
  Central pair and transposition defect0 (0)
  Normal ciliary ultrastructure3 (5.5)
  Unavailable4 (7.3)
HRCT scoring
 Patients analysed93
 Extent of bronchiectasis %44.4 (0–100.0; 33.3–63.9)
 Severity of bronchial wall dilatation %50.0 (0.0–83.3; 33.3–66.7)
 Bronchial wall thickness %33.3 (5.6–83.3; 22.2–44.4)
 Small airway mucus plugging %58.3 (0.0–100.0; 41.7–75.0)
 Large airway mucus plugging %0.0 (0.0–58.3; 0.0–0.0)
 Mosaicism %61.2 (0.0–85.0; 47.5–71.7)
 Emphysema %0.0 (0.0–0.0)#
Pulmonary function at baseline
 Patients analysed118
 FEV1 % pred71.5±21.5
 FEV1/FVC %69.7±14.7
 TLC % pred104.6±16.8
 RV/TLC %140.1±33.2
TLCO % pred82.7±18.6
KCO % pred96.8±14.1
Cumulative sputum microbiology during follow-up period n (%)
Pseudomonas aeruginosa colonisation68 (44.4)
 NTM infection5 (3.3)
 Allergic bronchopulmonary aspergillosis4 (2.6)
Lung function change with age
 Patients analysed82
 Estimated change in FEV1 % pred per year−0.49 (−1.68–0.70)
 Estimated change after adjusting for age and sex mL·year−1−27.34 (−65.13–10.44)
  • Data are presented as median (range; interquartile range) or mean±sd, unless otherwise stated. TEM: transmission electron microscopy; HRCT: high-resolution computed tomography; FEV1: forced expiratory volume in 1 s; FVC: forced vital capacity; TLC: total lung capacity; RV: residual volume; TLCO: transfer factor of the lung for carbon monoxide; KCO: transfer coefficient of the lung for carbon monoxide, i.e. gas transfer ability per unit volume of lung; NTM: nontuberculous mycobacteria. #: median (range); : based on regression coefficient (estimated range where 95% of values would lie); see main text for details.