Long-Term Lung Function and Infection in Genotyped Primary Ciliary Dyskinesia.

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by progressive lung disease. is a major pathogen in this disease and is known to impact lung function. Previous genotype-phenotype studies have been limited by cross-sectional designs, isolated adult or pediatric populations, small numbers, or short follow-up durations. We aimed to explore long-term lung function in PCD grouped by genotypes and ultrastructural defects, considering the influence of . In this retrospective observational study, we analyzed 43 years of spirometry and 20 years of microbiology data. Using linear mixed-effects models, we estimated forced expiratory volume in 1 second -score trends and compared them at ages 10, 25, and 50 years, whereas generalized estimating equations were used to assess prevalence between groups. In a secondary analysis, we matched spirometry and microbiology samples to evaluate the influence of on lung function. We included 127 genotyped patients, 6,691 spirometry measurements, and 10,082 microbiology samples. and variants showed early-onset and sustained decline in lung function, whereas and variants demonstrated relative stability. Lung function in the proximity of positive cultures was on average 0.06 -score lower. Despite this, differences between groups remained largely unaffected by . Long-term lung function in PCD follows discrete genotype-specific profiles and appears independent of infection. We confirm and extend previous findings of and as variants associated with early-onset severe lung function impairment persisting in the long term.