Total patients | 151 |
Age in 2014 years | 35 (19–75; 26–47) |
Male n (%) | 58 (38.4) |
Age at diagnosis years | 23.5 (<1–72; 10–36) |
Smokers n (%) | 12 (8.0) |
Length of follow-up years | 7 (1–34; 3–13) |
All-cause mortality n (%) | 7 (4.6) |
Respiratory cause mortality n (%) | 5 (3.3) |
Nasal nitric oxide | |
Patients analysed | 97 |
ppb | 42.0 (5.0–229.0; 23.0–70.0) |
nL·min−1 | 10.5 (1.3–57.3; 5.8–17.5) |
Ciliary beat frequency | |
Patients analysed | 144 |
Hz | 0 (0–16.85)# |
≤8 Hz % | 80.7 |
>8 Hz % | 19.3 |
Ciliary TEM ultrastructure n (%) | |
Patients analysed | 141 |
Inner and outer dynein arm defect | 36 (25.5) |
Outer dynein arm defect | 56 (39.7) |
Inner dynein arm defect | 3 (2.1) |
Inner dynein arm defect with microtubular disorganisation | 14 (9.9) |
Central pair and transposition defect | 13 (9.2) |
Normal ciliary ultrastructure | 16 (11.3) |
Inconclusive | 3 (2.1) |
Ciliary TEM ultrastructure groups n (%) | |
Patients analysed | 138 |
Outer arm±inner arm defect | 92 (66.7) |
Microtubular defects | 27 (19.6) |
Normal/inconclusive | 19 (13.8) |
Situs inversus n (%) | |
Patients analysed | 144 |
With situs inversus | 55 (38.2) |
Inner and outer dynein arm defect | 16 (29.1) |
Outer dynein arm defect | 27 (49.1) |
Inner dynein arm defect | 1 (1.8) |
Inner dynein arm defect with microtubular disorganisation | 4 (7.3) |
Central pair and transposition defect | 0 (0) |
Normal ciliary ultrastructure | 3 (5.5) |
Unavailable | 4 (7.3) |
HRCT scoring | |
Patients analysed | 93 |
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 analysed | 118 |
FEV1 % pred | 71.5±21.5 |
FEV1/FVC % | 69.7±14.7 |
TLC % pred | 104.6±16.8 |
RV/TLC % | 140.1±33.2 |
TLCO % pred | 82.7±18.6 |
KCO % pred | 96.8±14.1 |
Cumulative sputum microbiology during follow-up period n (%) | |
Pseudomonas aeruginosa colonisation | 68 (44.4) |
NTM infection | 5 (3.3) |
Allergic bronchopulmonary aspergillosis | 4 (2.6) |
Lung function change with age | |
Patients analysed | 82 |
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)¶ |