Lung function longitudinal study by phenotype and genotype in primary ciliary dyskinesia

There is considerable variability in the severity and progression of lung disease in primary ciliary dyskinesia (PCD). Few studies have related progression of lung function to the underlying ultrastructural defect. We investigated the age-related evolution of spirometry to identify associations between ultrastructural defects, gene mutations, BMI,6 and bacterial airway infections in a longitudinal study of adult and pediatric patients with PCD.