A longitudinal study characterising a large adult primary ciliary dyskinesia population.
Primary ciliary dyskinesia (PCD) in adults has not been well described. In this retrospective observational study we aimed to characterise a large adult population and identify features associated with disease progression.We retrospectively analysed 151 adult patients at a single tertiary centre at baseline and longitudinally for a median of 7 years.We found significant variation in age at diagnosis (median 23.5 years; range <1-72 years). Older age at diagnosis was associated with impaired baseline forced expiratory volume in 1 s (FEV1) (r= -0.30, p=0.01) and increased Pseudomonas aeruginosa colonisation (difference in medians 17 years (95% CI 4.5-20 years); p=0.002). Lung function decline was estimated at FEV1 decline of 0.49% predicted per year. Lung function decline was associated with ciliary ultrastructure, with microtubular defect patients having the greatest decline (p=0.04). High-resolution computed tomography (HRCT) scores of severity of bronchial wall dilatation (p<0.001) and extent of bronchiectasis (p=0.03) additionally showed evidence of modifying FEV1 decline with age.Our study reveals that a large proportion of adult PCD patients are diagnosed late, with impaired FEV1 and increased P. aeruginosa colonisation. Increased disease burden on HRCT and ciliary ultrastructure may predict progressive lung function decline. This study characterises a large adult PCD population, identifies features associated with disease progression and highlights the need for prospective trials to determine whether early diagnosis of high-risk subgroups alongside optimal management can modify disease progression.
Host Defence Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK Imperial College London, London, UK.
Anand
A
Shah
Imperial College London, London, UK Electron Microscopy Dept, Royal Brompton and Harefield NHS Foundation Trust, London, UK.
Amelia
A
Shoemark
Dept of Occupational and Environmental Medicine, Imperial College London, London, UK.
Stephanie J
SJ
MacNeill
Dept of Radiology, Royal Brompton and Harefield NHS Foundation Trust, London, UK.
Basrull
B
Bhaludin
Host Defence Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK Electron Microscopy Dept, Royal Brompton and Harefield NHS Foundation Trust, London, UK.
Andrew
A
Rogers
Host Defence Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK Imperial College London, London, UK.
Diana
D
Bilton
Imperial College London, London, UK Dept of Radiology, Royal Brompton and Harefield NHS Foundation Trust, London, UK.
David M
DM
Hansell
Host Defence Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK Imperial College London, London, UK.
Robert
R
Wilson
Host Defence Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK Imperial College London, London, UK M.Loebinger@rbht.nhs.uk.
Michael R
MR
Loebinger
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D005541:Forced Expiratory Volume; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000628:therapy*; D008137:Longitudinal Studies; D008168:Lung / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D012129:Respiratory Function Tests; D012189:Retrospective Studies; D013183:Sputum; D014057:Tomography, X-Ray Computed; D055815:Young Adult