Structural and functional lung disease in primary ciliary dyskinesia

Abstract

Background: High-resolution CT (HRCT) scan data on primary ciliary dyskinesia (PCD) related lung disease are scarce.

Study objectives: We evaluated the lung disease in children and adults with PCD by a modified Brody composite HRCT scan score to assess the prevalence of the structural abnormalities; to evaluate the correlation among HRCT scan scores, spirometry findings, and clinical data; and to compare the PCD scores with those of age-matched and sex-matched cystic fibrosis (CF) patients.

Patients and methods: Twenty PCD patients (age range, 4.6 to 27.5 years) underwent HRCT scanning, spirometry, and deep throat or sputum culture. A modified Brody score was used to assess bronchiectasis, mucous plugging, peribronchial thickening, parenchyma abnormalities, and mosaic perfusion.

Results: The total HRCT scan score was 6% of the maximal score (range, 0.5 to 25.5). Subscores were as follows: bronchiectasis, 5.6%; mucous plugging, 5.6%; peribronchial thickening, 8.3%; parenchyma, 3%; and mosaic perfusion, 0%. The prevalence of lung changes were as follows: bronchiectasis, 80%; peribronchial thickening, 80%; mucous plugging, 75%; parenchyma, 65%; and mosaic perfusion, 45%. Sixteen of 19 PCD patients had positive culture findings, and the most common pathogen found was Haemophilus influenzae (84%). The total HRCT scan score was significantly related to age (p = 0.006), FEV(1) (p = 0.02), and FVC (p = 0.02). The bronchiectasis subscore was significantly related to FEV(1) (p = 0.04) and FVC (p = 0.03). In CF patients, the total HRCT scan score was significantly higher than that in PCD patients (p = 0.02).

Conclusions: PCD patients show significantly lower pulmonary HRCT scan scores than CF patients. The PCD total and bronchiectasis scores correlate with spirometry findings. The PCD HRCT scan score might be used for longitudinal assessment and/or represent an outcome surrogate in future studies.