BACKGROUND: Magnetic resonance imaging (MRI) revealed a high prevalence of lung abnormalities in children with primary ciliary dyskinesia (PCD). However, longitudinal imaging data on the onset and progression are lacking. RESEARCH QUESTION: When do abnormalities in lung morphology and perfusion in patients with PCD first emerge, and how do they longitudinally progress from infancy through adulthood as assessed by MRI? STUDY DESIGN: and Methods: 189 MRI examinations (mean examinations per patient 2.4+/-1.7, range 1-10) from 75 patients with PCD (mean age 17.7+/-15.0 years, range 0-65 years) were included. MRI was assessed using the chest MRI scoring system by two independent readers. Spirometry was performed at the time of MRI, and the Bronchiectasis Severity Index (BSI) was calculated in adult patients. RESULTS: Bronchiectasis/wall thickening, mucus plugging, consolidation and perfusion abnormalities were highly prevalent at infancy (100%, 80% 60% and 50%, respectively). Prevalence of mucus plugging, consolidation and perfusion abnormalities increased at adulthood (97%, 80% and 97%, respectively; P<0.05). The MRI global score averaged 14.5+/-4.5 at infancy, showed stability from preschool age through school age and adolescence (18.4+/-6.7, 19.8+/-8.2, and 18.5+/-9.6, P=0.386-0.529, respectively), and an elevation in adulthood (26.7+/-7.2, P<0.001). MRI morphology, perfusion and global score correlated weakly with age (r=0.20-0.38, P<0.05) and showed moderate to strong correlations with forced expiratory volume in 1 s percent predicted (r=-0.44 to -0.71, P<0.001) and BSI (r=0.44 - 0.49, P<0.001). INTERPRETATION: Our study shows an early onset of lung disease in PCD already at infancy, and a progressive increase in the prevalence and extent of changes in lung morphology and perfusion at adulthood. These results support the use of MRI as an endpoint in clinical trials in patients with PCD.
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