The Evaluation of the Genotype and Phenotype Relationship in Patients With Nasal Polyps in Cystic Fibrosis Registry of Turkey

Abstract

Introduction Cystic fibrosis (CF) is a complex genetic disorder characterized by significant clinical heterogeneity. We aimed to investigate the genotype-phenotype relationship of nasal polyps (NP) in CF Registry of Turkey (CFRT). Methods The study included all children registered in the CFRT in 2023, divided into two groups based on NP presentation. Clinical and demographic data were compared. The Sinus-Nasal Quality of Life (QoL) Survey-5(SN-5) evaluated patients with NP history. Results A total of 2258 patients were registered, with 115 (5.1%) having NP and 2143 without NP. Age was higher in the NP group (p < 0.001). The first and second sweat tests were higher in the NP group (p < 0.05). Median FEV1% was 89 (31-133) for the NP group and 85 (15-142) for those without NP (p = 0.015). Chronic colonization of MSSA and MRSA, CF-related liver disease, and CF-related diabetes were also more common in NP (p < 0.05). No differences were detected in pulmonary exacerbations (p > 0.05). In the NP group, severe genotype and F508del were more frequent (p < 0.05). Elexacaftor/tezacaftor/ivacaftor use was more common in NP (p = 0.003). A weak negative correlation was found between age and the SN-5 score (p = 0.020, r = -0.231), as well as a weak positive correlation between age and the Visual Analog Scale (VAS) (p = 0.001, r = 0.322). Conclusion Although uncommon, NP is associated with more severe clinical and genetic characteristics in CF. These findings underscore the importance of integrating upper airway evaluation into CF management and highlight the potential for age-related adaptation or improved symptom perception in older patients.