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Rationale: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by progressive lung disease. Pseudomonas aeruginosa 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. Objectives: We aimed to explore long-term lung function in PCD grouped by genotypes and ultrastructural defects, considering the influence of P. aeruginosa. Methods: 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 z-score trends and compared them at ages 10, 25, and 50 years, whereas generalized estimating equations were used to assess P. aeruginosa prevalence between groups. In a secondary analysis, we matched spirometry and microbiology samples to evaluate the influence of P. aeruginosa on lung function. Results: We included 127 genotyped patients, 6,691 spirometry measurements, and 10,082 microbiology samples. CCDC39 and CCDC40 variants showed early-onset and sustained decline in lung function, whereas DNAH11 and HYDIN variants demonstrated relative stability. Lung function in the proximity of positive P. aeruginosa cultures was on average 0.06 z-score lower. Despite this, differences between groups remained largely unaffected by P. aeruginosa. Conclusions: Long-term lung function in PCD follows discrete genotype-specific profiles and appears independent of P. aeruginosa infection. We confirm and extend previous findings of CCDC39 and CCDC40 as variants associated with early-onset severe lung function impairment persisting in the long term. [ABSTRACT FROM AUTHOR]

Tracheomalacia causes considerable morbidity in children, and the best treatment options remain debated. This paper presents a case series of seven Danish children who underwent surgical interventions, such as tracheopexy and aortopexy, demonstrating favourable clinical outcomes, notably with early intervention. We discuss the indications, timing and potential benefits of surgery for tracheomalacia in reducing respiratory symptoms caused by tracheal collapse. Our case series highlights the potential of surgical options in managing tracheomalacia, emphasising the need for standardised protocols, multidisciplinary and international collaboration, and further research to optimise treatment strategies and outcomes. [ABSTRACT FROM AUTHOR]