Primary ciliary dyskinesia: Respiratory tract infections and impact of pseudomonas aeruginosa

Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disease that causes a mucociliary clearance defect resulting in recurrent pulmonary disease infections and chronic rhino-sinusitis in childhood. Longitudinal assessment of the tracheobronchial infections from children with PCD is lacking. Objectives and methods:This retrospective multicenters study aimed to identify the main bacteria responsible for tracheobronchial primitive and chronic infections in patients with PCD and evaluated the clinical and functional outcome after 2 and 5 years of colonization. The secondary objective was to investigate risk factors for acquisition of Pseudomonas aeruginosa (PA) and its pronostic value. Results: 05 patients with PCD aged 3-29 years were identified. The average age was 13 years. 22.8% were more18 years. Microbiological sputum included five main bacteria: Haemophilus influenzae (64.8%), Streptococcus pneumoniae (48.6%), PA (27.7%), Staphylococcus aureus 17.1%) and Moraxella catarrhalis (16.2%). PA infection was associated to a more rapid decline of Forced Expiratory Volume in one second (FEV1) values (p = 0.01). For other pathogens, it was not found clinical degradation and there was stability of FEV1. Only age was identified as a risk factor for PA infection. Risk PA infection was not associated to the type of the ultrastructural defect. Conclusion: The PA seems to be associated to pulmonary functional decline in PCD. It is necessary to confirm these findings in a prospective study with a larger number of patients.