Parisi Giuseppe Fabio, Terlizzi Vito, Manti Sara, Papale Maria, Pecora Giulia, Presti Santiago, Tosto Monica, Leonardi Salvatore
Pediatric Respiratory Unit, Department of Clinical and Experimental Medicine, San Marco Hospital, University of Catania, 95121 Catania, Italy.
Cystic Fibrosis Regional Reference Centre, Department of Paediatric Medicine, Meyer Children's Hospital IRCCS, Viale Gaetano Pieraccini 24, 50139 Florence, Italy.
Genes (Basel). 2025 Mar 30;16(4):402. doi: 10.3390/genes16040402.
Cystic fibrosis (CF), a genetic disorder characterized by mutations in the CFTR gene, has seen significant advances in treatment through cutting-edge approaches such as gene therapy and personalized medicine. This review examines the current and emerging strategies shaping CF care, focusing on novel therapies that target the root cause of CF and optimize patient outcomes. CFTR modulators have transformed cystic fibrosis management by enhancing protein function for specific mutations, leading to improved lung function and quality of life. Concurrently, gene therapy offers transformative potential by aiming to correct CFTR mutations using tools like CRISPR/Cas9 or prime editing, though challenges remain in delivery and long-term efficacy. The integration of precision medicine, facilitated by genomic and computational technologies, allows for personalized treatment plans that account for genetic variability and disease severity. Complementing these approaches, holistic management emphasizes the importance of psychological support and nutritional optimization, acknowledging CF's multi-system impact. Future directions include exploring anti-inflammatory agents and microbiome modulation to further mitigate disease morbidity. However, global disparities in treatment access continue to challenge equitable healthcare delivery, underscoring the need for policy reform and international cooperation. By synthesizing these developments, this review highlights the transformative potential of modern CF treatments, advocating for continued innovation and global healthcare equity, with the ultimate goal of dramatically improving life expectancy and quality of life for individuals with CF.
囊性纤维化(CF)是一种由CFTR基因突变引起的遗传性疾病,通过基因治疗和个性化医疗等前沿方法,其治疗取得了重大进展。本综述探讨了塑造CF护理的当前和新兴策略,重点关注针对CF根本原因并优化患者预后的新型疗法。CFTR调节剂通过增强特定突变的蛋白质功能,改变了囊性纤维化的管理方式,从而改善了肺功能和生活质量。同时,基因治疗通过使用CRISPR/Cas9或碱基编辑等工具来纠正CFTR突变,具有变革潜力,尽管在递送和长期疗效方面仍存在挑战。在基因组学和计算技术的推动下,精准医学的整合能够制定个性化的治疗方案,以考虑遗传变异性和疾病严重程度。作为这些方法的补充,整体管理强调心理支持和营养优化的重要性,认识到CF对多系统的影响。未来的方向包括探索抗炎药物和微生物群调节,以进一步减轻疾病发病率。然而,治疗可及性方面的全球差异继续挑战公平的医疗服务提供,凸显了政策改革和国际合作的必要性。通过综合这些进展,本综述强调了现代CF治疗的变革潜力,倡导持续创新和全球医疗公平,最终目标是显著提高CF患者的预期寿命和生活质量。
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