CHEST Guidelines-Lung-Function-Longitudinal-Study-by-Phenotype-and-

Lung-Function-Longitudinal-Study-by-Phenotype-and-

Pdf Summary

This study investigates the variability in lung disease severity and progression in patients with Primary Ciliary Dyskinesia (PCD), correlating lung function decline with specific genetic and ultrastructural factors. Conducted over up to 10 years with 135 patients, the study assessed lung function using spirometry and infection presence, focusing on ultrastructural defects and specific genetic mutations.<br /><br />Participants with confirmed PCD diagnoses were analyzed for mutations in 35 PCD-related genes. Lung function parameters (FEV1, FVC, FEV1/FVC, FEF25-75) were tracked longitudinally, comparing trends with genetic and structural profiles and bacterial infections, predominantly Pseudomonas aeruginosa (PsA).<br /><br />Key findings highlighted that patients with IDA/CA/MTD or CA ultrastructural defects had lower spirometry scores and steeper declines in lung function. Genotypically, patients with CCDC39 or CCDC40 mutations suffered the most severe declines, while those with DNAH11 mutations fared better. The study also observed that BMI positively correlated with spirometry in children, indicating that better nutritional status might slow lung function deterioration.<br /><br />PsA infections were associated with worse lung function outcomes, suggesting a necessity for aggressive eradication strategies upon initial PsA detection. The study calls for randomized trials to evaluate PsA treatment regimens effectively.<br /><br />Despite some limitations, like small subgroups and a slightly outdated gene panel, the study emphasizes the importance of recognizing patients with certain genotypes or ultrastructural defects for more intensive treatment approaches and assessment of prognoses. This research contributes valuable data to managing PCD, underscoring the significance of genetic and phenotypic factors in respiratory health outcomes. The study is supported by the Italian PCD – Kartagener Syndrome Association and part of a broader European network for rare respiratory diseases.

Keywords

Primary Ciliary Dyskinesia

lung disease

genetic mutations

ultrastructural defects

spirometry

Pseudomonas aeruginosa

CCDC39

CCDC40

DNAH11

nutritional status