Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study

Area of Science:

• Pulmonary Medicine
• Genetics
• Pediatrics

Background:

• Primary ciliary dyskinesia (PCD) necessitates early diagnosis and treatment to mitigate lung damage.
• Long-term lung function trajectories following PCD diagnosis remain understudied.

Purpose of the Study:

• To investigate the long-term evolution of lung function in individuals with PCD.
• To determine if lung function decline is associated with age or lung function level at the time of PCD diagnosis.

Main Methods:

• An observational, longitudinal study spanning three decades at a single center.
• Analysis of forced expiratory volume in 1 second (FEV1) and forced vital capacity (FVC) in relation to age at diagnosis.
• Linear regression models were employed to assess lung function trends and their correlation with diagnostic factors.

Main Results:

• The study included 74 individuals with PCD, with a median follow-up of 9.5 years.
• One-third of preschool-diagnosed children had FEV1 below 80% of predicted at initial measurement.
• Lung function courses showed significant variability; 34% experienced decline, 57% remained stable, and 10% improved, independent of age or initial lung function status.

Conclusions:

• PCD presents a serious risk to lung function, even in preschool-aged children.
• Lung function trajectories in PCD are highly variable and not predictable by age or initial lung function at diagnosis.
• Early diagnosis of PCD does not appear to confer protection against subsequent lung function decline.