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A longitudinal study characterising a large adult primary ciliary dyskinesia population

Anand Shah, Amelia Shoemark, Stephanie J. MacNeill, Basrull Bhaludin, Andrew Rogers, Diana Bilton, David M. Hansell, Robert Wilson, Michael R. Loebinger
European Respiratory Journal 2016 48: 441-450; DOI: 10.1183/13993003.00209-2016
Anand Shah
1Host Defence Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK
2Imperial College London, London, UK
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Amelia Shoemark
2Imperial College London, London, UK
3Electron Microscopy Dept, Royal Brompton and Harefield NHS Foundation Trust, London, UK
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Stephanie J. MacNeill
4Dept of Occupational and Environmental Medicine, Imperial College London, London, UK
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Basrull Bhaludin
5Dept of Radiology, Royal Brompton and Harefield NHS Foundation Trust, London, UK
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Andrew Rogers
1Host Defence Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK
3Electron Microscopy Dept, Royal Brompton and Harefield NHS Foundation Trust, London, UK
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Diana Bilton
1Host Defence Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK
2Imperial College London, London, UK
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David M. Hansell
2Imperial College London, London, UK
5Dept of Radiology, Royal Brompton and Harefield NHS Foundation Trust, London, UK
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Robert Wilson
1Host Defence Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK
2Imperial College London, London, UK
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Michael R. Loebinger
1Host Defence Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK
2Imperial College London, London, UK
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  • For correspondence: M.Loebinger@rbht.nhs.uk
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  • FIGURE 1
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    FIGURE 1

    a) Diagnostic breakdown of our cohort. b) Lobar distribution of bronchiectasis seen in adult primary ciliary dyskinesia. c) Cumulative respiratory microbial colonisation in our cohort. H. influenzae: Haemophilus influenzae; S. pneumoniae: Streptococcus pneumoniae; S. aureus: Staphylococcus aureus; MRSA: methicillin-resistant S. aureus; P. aeruginosa: Pseudomonas aeruginosa; M. catarrhalis: Moraxella catarrhalis; A. fumigatus: Aspergillus fumigatus; NTM: nontuberculous mycobacteria.

  • FIGURE 2
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    FIGURE 2

    a) Correlation between age at diagnosis and baseline forced expiratory volume in 1 s (FEV1) (r= −0.30, p=0.01) in our adult primary ciliary dyskinesia cohort. b) Increased age at diagnosis was seen for those with Pseudomonas aeruginosa colonisation compared with those without (difference in medians 17 years (95% CI 4.5–20 years); p=0.002). c) Significantly impaired FEV1 at baseline was also seen in those with P. aeruginosa colonisation (difference in medians −8.5% pred (95% CI −17– −1.0% pred); p=0.02). Horizontal lines and whiskers represent the mean and sem, respectively.

  • FIGURE 3
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    FIGURE 3

    Predicted longitudinal forced expiratory volume in 1 s (FEV1) for individual patients estimated from mixed models. Models allowed for a random effect on age. a) Mixed model of the cohort adjusted for ciliary ultrastructure and age. b) Mixed model adjusting for ciliary ultrastructure and stratified by high-resolution computed tomography (HRCT) score of severity of bronchial wall dilatation. c) Mixed model adjusting for ciliary ultrastructure and stratified by HRCT score of extent of bronchiectasis. d) Mixed model stratified by ciliary ultrastructure. a–d) Predicted longitudinal FEV1 values are shown, rather than observed FEV1 values; therefore, the points follow a strict linear trend. e) Estimated projected decline calculated from mixed models within the three categories of HRCT severity of bronchial wall dilatation (using an 18-year-old with 100% predicted FEV1 as a starting point).

Tables

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  • 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.

  • TABLE 2

    Analysis of association between covariates and repeated measurements of forced expiratory volume in 1 s % predicted, from multilevel models

    CovariateB coefficient
    (95% CI)#
    p-valuep-value from likelihood ratio test for interaction with age¶Patients included in analysis+
    Sex4.02 (−4.02–12.05)0.33108
    BMI0.31 (−0.17–0.79)0.21108
    Age at diagnosis0.001 (−0.35–0.35)1.0059
    Nasal nitric oxide0.10 (−0.01–0.22)0.0968
    Ciliary beat frequency6.47 (−15.76–2.82)0.17101
    Pseudomonas aeruginosa−0.37 (−2.37–1.63)0.72107
    Ciliary ultrastructure by TEM0.03§0.0497
     Normal or inconclusive0.00
     Outer±inner arm defect3.90 (−7.01–14.80)
     Microtubular defects10.29 (−23.59–3.01)
    Extent of bronchiectasis−0.18 (−0.41–0.05)ƒ0.1220.0368
    Severity of bronchial wall dilatation−0.17 (−0.36–0.02)ƒ0.080.01+68
    Bronchial wall thickness−0.29 (−0.56– −0.01)ƒ0.0450.06+68
    Small airway plugging (continuous)−0.29 (−0.46– −0.13)ƒ<0.0010.196+68
    Large airway plugging−0.63 (−1.08– −0.17)ƒ0.0070.19+68
    Mosaicism−0.26 (−0.46– −0.07)ƒ0.0080.16+68
    • BMI: body mass index; TEM: transmission electron microscopy. #: B coefficients are to be interpreted as the change in forced expiratory volume in 1 s (FEV1) for each unit change of the covariate after adjusting for age at which the measurement was made; ¶: tests for interaction with age assess whether these covariates affect how FEV1 changes as patients get older; +: patients included in each of these regression analyses had non-missing data for FEV1, age at the time the FEV1 measure was taken, the covariate under study, and ciliary ultrastructure where this was adjusted for; §: the p-value for this covariate relates to the covariate as a whole rather than one level or another; ƒ: after additionally adjusting for ciliary ultrastructure.

  • TABLE 3

    Mean change in forced expiratory volume in 1 s (FEV1) % predicted per year in different patient subgroups, estimated from multilevel models

    Patient subgroupsMean change in FEV1 % pred per yearRange for 95% of patients' changes in FEV1 % predPatients in model#
    Ciliary ultrastructure by TEM¶
     Microtubular defects−0.75−2.08–0.5818
     Outer±inner arm defect−0.51−1.41–0.3964
     Normal or inconclusive−0.13−1.53–1.2815
    Extent of bronchiectasis+
     <44%−0.08−0.92–0.7520
     ≥44% and <55%−0.65−1.52–0.2225
     ≥55%−0.59−2.13–0.9523
    Severity of bronchial wall dilatation+
     <33%0.16−0.20–0.5312
     ≥33% and <67%−0.57−1.31–0.1742
     ≥67%−0.89−2.74–0.9514
    • TEM: transmission electron microscopy. #: models were run for different patient subgroups depending on their ciliary ultrastructure, extent of bronchiectasis and severity of bronchial wall dilatation; as well as this, patients were required to have non-missing data for FEV1, age at the time the FEV1 measure was taken and any other variables in the model. ¶: model stratified by ciliary ultrastructure by TEM categories. +: models stratified by high-resolution computed tomography categories where there was evidence of interaction with age (p<0.05); all adjusted for ciliary ultrastructure by TEM.

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A longitudinal study characterising a large adult primary ciliary dyskinesia population
Anand Shah, Amelia Shoemark, Stephanie J. MacNeill, Basrull Bhaludin, Andrew Rogers, Diana Bilton, David M. Hansell, Robert Wilson, Michael R. Loebinger
European Respiratory Journal Aug 2016, 48 (2) 441-450; DOI: 10.1183/13993003.00209-2016

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A longitudinal study characterising a large adult primary ciliary dyskinesia population
Anand Shah, Amelia Shoemark, Stephanie J. MacNeill, Basrull Bhaludin, Andrew Rogers, Diana Bilton, David M. Hansell, Robert Wilson, Michael R. Loebinger
European Respiratory Journal Aug 2016, 48 (2) 441-450; DOI: 10.1183/13993003.00209-2016
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