Clinical characteristics and imaging of adult PCD patients: a single-center experience.

Introduction: Primary ciliary dyskinesia (PCD) is a heterogeneous genetic disease characterized by motile ciliary dysfunction. Data on adult population remains limited. We herein aim to report the clinical and radiological features of a Greek PCD cohort. Methods: We reviewed retrospectively clinical and laboratory information of adult PCD patients from a single reference center for bronchiectasis. Chest HRCTs were scored for bronchiectasis morphology, distribution and associated findings. Results: 15 PCD patients were studied. Mean (±SD) age was 38 (±18.8), 60% were female and 67% were never-smokers. One third of patients were diagnosed during adulthood. Common clinical features included sinusitis (93.3%), chronic productive cough (86.7%), otitis (33.3%) and fatigue (33.3%). Mean FVC and FEV1 (%pred) were 77.5 (±19.4) and 72.5 (±22.8) respectively. 14 patients isolated at least one pathogen in sputum culture with a high prevalence of pseudomonas aeruginosa (PA) (80%). Analysis of the BSI score revealed mild disease severity in 50%, while severe disease was reported in 21.4%. Mean BSI was 4.6 (±3.2). According to HRCT, all patients exhibited bronchiectasis in ≥3 lobes sparing of apices. Mean Reiff score was 8.7 (±2.7). The most common additional finding was tree-in-bud (86.7%), while situs inversus was identified in one third of patients. Furthermore, we noticed middle lobe cicatrisation atelectasis in 40%. Interestingly, this feature was observed in 80% of patients with chronic PA infection. Conclusions: This cohort broadens the clinical and imaging features of adults with PCD. Chronic PA infection may relate to permanent radiological abnormalities.