Prevalence, type, and clinical implications of CFTR variants in bronchiectasis.

IF 6.4 2区医学 Q1 RESPIRATORY SYSTEM

Pulmonology Pub Date : 2026-12-01 Epub Date: 2026-01-13 DOI:10.1080/25310429.2025.2588945

Andrea Gramegna, Lucia Allavena, Gianfranco Alicandro, Elisa Canella, Mattia Nigro, Chiara Premuda, Margherita Ori, Martina Santambrogio, Luigi Porcaro, Daniele Prati, Luca Valenti, Stefano Aliberti, Francesco Blasi

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引用次数: 0

Abstract

Background and objective: Bronchiectasis is a chronic lung condition characterised by persistent respiratory symptoms and permanent bronchial dilation. CFTR variants are commonly reported in patients with bronchiectasis with unclear clinical implications.This study aims to investigate the prevalence of CFTR variants in people with bronchiectasis and their association with clinical characteristics.

Methods: Patients were recruited from two centres in Milan, Italy and screened for CFTR variants. The prevalence of CFTR variants in people with bronchiectasis was compared to that of a control group of healthy blood donors. Sweat chloride levels, pulmonary function tests, airway microbiology, disease severity and respiratory symptoms were compared between CFTR variant carriers and non-carriers.

Results: The study included 454 adults with bronchiectasis and 250 individuals in the control group. Among those with bronchiectasis, 178 individuals (39.2%) carried at least one CFTR variant, with 41 (9.0%) identified as having a CF-causing variant. This prevalence was higher than that observed in the control group (n = 10, 4%). The odds ratio of carrying a CF-causing variant among bronchiectasis patients was 2.83 (95% CI: 1.39-5.79, p = 0.004). No significant association was found between CFTR carrier status and clinical outcomes.

Conclusions: CFTR variants are frequently observed in patients with bronchiectasis, although they are not associated with increased disease severity.

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支气管扩张症CFTR变异的患病率、类型和临床意义。

背景和目的：支气管扩张是一种慢性肺部疾病，其特征是持续的呼吸系统症状和永久性支气管扩张。CFTR变异常见于支气管扩张患者，临床意义尚不明确。本研究旨在探讨CFTR变异在支气管扩张患者中的患病率及其与临床特征的关系。方法：从意大利米兰的两个中心招募患者，筛选CFTR变异。将支气管扩张患者CFTR变异的流行率与健康献血者的对照组进行比较。比较CFTR变异携带者和非携带者的汗液氯化物水平、肺功能测试、气道微生物学、疾病严重程度和呼吸道症状。结果：该研究包括454名成人支气管扩张患者和250名对照组。在支气管扩张患者中，178人（39.2%）携带至少一种CFTR变异，其中41人（9.0%）被确定患有cf引起的变异。这一患病率高于对照组（n = 10.4%）。支气管扩张患者携带cf致病变异的比值比为2.83 （95% CI: 1.39-5.79, p = 0.004）。CFTR携带者状态与临床结果之间未发现显著关联。结论：CFTR变异在支气管扩张患者中经常观察到，尽管它们与疾病严重程度增加无关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pulmonology Medicine-Pulmonary and Respiratory Medicine

CiteScore

14.30

自引率

5.10%

发文量

159

审稿时长

19 days

期刊介绍： Pulmonology (previously Revista Portuguesa de Pneumologia) is the official journal of the Portuguese Society of Pulmonology (Sociedade Portuguesa de Pneumologia/SPP). The journal publishes 6 issues per year and focuses on respiratory system diseases in adults and clinical research. It accepts various types of articles including peer-reviewed original articles, review articles, editorials, and opinion articles. The journal is published in English and is freely accessible through its website, as well as Medline and other databases. It is indexed in Science Citation Index Expanded, Journal of Citation Reports, Index Medicus/MEDLINE, Scopus, and EMBASE/Excerpta Medica.