PCD Lung Research using Breath Analysis

Primary ciliary dyskinesia (PCD) is characterized by recurrent pulmonary infections and progressive lung damage. This is caused by disturbed mucociliary clearance due to dysfunction of the cilia lining the airways. To diagnose PCD a biopsy of respiratory epithelium is required for ciliary analysis (electron microscopy and high speed video microscopy). Patients with PCD suffer from a gradual decline in lung function and frequent respiratory tract infections for which antibiotics are indicated. Over the course of years mucociliary clearance deteriorates further due to chronic infection causing a downward spiral between damage and the risk of subsequent infections. Subsequently patients develop diffuse airway damage. In this light, early recognition and treatment of infections, preventing airway damage, is key in optimizing quality of life and life expectancy.

In this longitudinal study we aim to test whether profiles of volatile organic compounds in exhaled breath are able to distinguish patients with PCD from healthy controls and whether these profiles are associated with lower respiratory tract infections and lung function deterioration in patients with PCD.