Airway microbial landscape in patients with primary ciliary dyskinesia – a pilot study

Primary ciliary dyskinesia (PCD) is a rare hereditary disease belonging to the group of ciliopathies. PCD is caused by a defect in the ultrastructure of the cilia of the respiratory epithelium and similar structures (sperm flagella, fallopian tube villi, ventricular ependyma) with a prevalence of 1:10,000 to 1:30,000 people. One of the main problems associated with this condition is frequent recurrent bacterial infections, which lead to decreased lung function and the development of bronchiectasis.

The aim was to study the microbial landscape of the respiratory tract of patients with PCD.

Methods. We studied the medical history and bacteriological assays of 170 throat, nasal, and sputum samples from 64 patients diagnosed with PCD. virological studies on pathogens of acute respiratory viral infection, using polymerase chain reaction with reverse transcription, and MALDITOF mass spectrometry were used to identify microorganisms.

Results. The assay identified 46 bacterial species, 4 viral species, and representatives of 2 fungal genera. The predominant bacteria were Staphylococcus aureus (62.5%) and Pseudomonas aeruginosa (26.6%). The identified fungi were Candida spp. and Aspergillus spp. Viruses (Adenoviridae, Coronaviridae, Rhinoviridae) were detected in 7 patients in association with representatives of normal microflora and clinically significant microorganisms such as S. aureus, Klebsiella pneumoniae, P. aeruginosa. Achromobacter spp., Stenotrophomonas maltophilia, Acinetobacter spp., and Moraxella spp. were isolated in individual cases in patients of all age groups.

Conclusion. The respiratory microflora was characterized by a species diversity of pathogens and was mixed in 79.7% of patients. A viral-bacterial associations was observed in 10.9% of patients. S. aureus was the predominant pathogen in the group of children and adolescents (58.3% and 82.6%, respectively), whereas P. aeruginosa predominated (52.9%) in the adult patients.

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