Pulmonary exacerbations in patients with genetically confirmed PCD: a prospective observational multicentre study

Area of Science:

• Pulmonology
• Genetics
• Rare Diseases

Background:

• Primary ciliary dyskinesia (PCD) is a rare genetic disorder causing impaired mucociliary clearance and chronic lung disease.
• Pulmonary exacerbations (PEx) significantly increase morbidity and lung function decline in chronic lung diseases.
• The frequency of PEx in PCD patients remains understudied.

Purpose of the Study:

• To prospectively determine the annual frequency of PEx in a genetically confirmed PCD cohort.
• To identify risk factors associated with PEx in PCD.

Main Methods:

• A multicentre, observational study involving 271 individuals with genetically confirmed PCD.
• Annual PEx frequency was assessed using three definitions: clinical criteria (Def-1), antibiotic treatment initiation/change (Def-2), and self-reporting.
• Data collected via monthly questionnaires and clinical visits over one year.

Main Results:

• Approximately 80% of 248 patients with complete records experienced at least one PEx annually across all definitions.
• Self-reported PEx (median 2) were more frequent than Def-1 (median 2) and Def-2 (median 1).
• Female sex, autumn season, and increasing age (Def-1) were associated with higher PEx frequency.

Conclusions:

• The definition used significantly impacts the assessment of PEx burden in PCD.
• PEx are common in PCD, affecting approximately 80% of patients annually.
• Sex, age, and season are important factors influencing PEx frequency in PCD.