Venditto Laura, Tosco Antonella, Sepe Angela, Castaldo Alice, Cimbalo Chiara, Fevola Cristina, Di Maurizio Marco, Baggi Roberto, Avenali Stefano, Terlizzi Vito
Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy.
Respiratory Endoscopy Unit, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.
J Clin Med. 2025 Mar 28;14(7):2320. doi: 10.3390/jcm14072320.
: Cystic Fibrosis (CF) is an autosomal recessive genetic disorder caused by variants in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Recently, a targeted therapy for CF has been developed, represented by the CFTR modulators that enhance or restore the function of the CFTR protein. The most recent is the combination of three modulators, Elexacaftor, Tezacaftor, and Ivacaftor (ETI). This study describes the presentation, management, and follow-up of tracheal diverticulum (TD) in pwCF receiving ETI therapy. : This retrospective study included people with CF (pwCF) on ETI treatment and followed up in two CF Italian centers who developed an asymptomatic TD, diagnosed incidentally at chest CT scan. : Among 268 pwCF receiving ETI, three (1.19%) were diagnosed with TD identified after chest CT and were included in this study. Endoscopic confirmation was obtained in one patient. All patients were on inhaled colistimethate, two of them for chronic colonization, and one undergoing eradication therapy. : TD may be identified in chest CT obtained in pwCF in treatment with ETI. Further studies and a longer follow up are needed to confirm these findings.
囊性纤维化（CF）是一种常染色体隐性遗传疾病，由编码囊性纤维化跨膜传导调节因子（CFTR）蛋白的基因变异引起。最近，已经开发出一种针对CF的靶向治疗方法，以增强或恢复CFTR蛋白功能的CFTR调节剂为代表。最新的是三种调节剂的组合，即依列卡福妥、替扎卡福妥和依伐卡托（ETI）。本研究描述了接受ETI治疗的CF患者中气管憩室（TD）的表现、管理和随访情况。 ：这项回顾性研究纳入了接受ETI治疗并在两个意大利CF中心接受随访的CF患者（pwCF），这些患者在胸部CT扫描时偶然发现了无症状的TD。 ：在268例接受ETI治疗的pwCF中，有3例（1.19%）在胸部CT检查后被诊断为TD，并纳入本研究。其中1例患者获得了内镜证实。所有患者均吸入了多粘菌素甲磺酸钠，其中2例用于慢性定植，1例正在接受根除治疗。 ：在接受ETI治疗的pwCF患者的胸部CT检查中可能发现TD。需要进一步的研究和更长时间的随访来证实这些发现。
