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囊性纤维化的前沿进展:从基因治疗到个性化医疗与整体管理。

Cutting-Edge Advances in Cystic Fibrosis: From Gene Therapy to Personalized Medicine and Holistic Management.

作者信息

Parisi Giuseppe Fabio, Terlizzi Vito, Manti Sara, Papale Maria, Pecora Giulia, Presti Santiago, Tosto Monica, Leonardi Salvatore

机构信息

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.

出版信息

Genes (Basel). 2025 Mar 30;16(4):402. doi: 10.3390/genes16040402.


DOI:10.3390/genes16040402
PMID:40282362
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12026723/
Abstract

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.

摘要

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。

相似文献

[1]
Cutting-Edge Advances in Cystic Fibrosis: From Gene Therapy to Personalized Medicine and Holistic Management.

Genes (Basel). 2025-3-30

[2]
Precision medicine advances in cystic fibrosis: Exploring genetic pathways for targeted therapies.

Life Sci. 2024-12-1

[3]
Unlocking the potential of CRISPR-Cas9 for cystic fibrosis: A systematic literature review.

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[4]
A new era of personalized medicine for cystic fibrosis - at last!

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[5]
Personalized medicine in CF: from modulator development to therapy for cystic fibrosis patients with rare CFTR mutations.

Am J Physiol Lung Cell Mol Physiol. 2017-12-14

[6]
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[7]
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Adv Respir Med. 2024-7-20

[8]
Modulator-refractory cystic fibrosis: Defining the scope and challenges of an emerging at-risk population.

Ther Adv Respir Dis. 2024

[9]
Translating the genetics of cystic fibrosis to personalized medicine.

Transl Res. 2016-2

[10]
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Curr Med Sci. 2024-12

引用本文的文献

[1]
Mechanisms of Lung Cancer Development in Cystic Fibrosis Patients: The Role of Inflammation, Oxidative Stress, and Lung Microbiome Dysbiosis.

Biomolecules. 2025-6-6

本文引用的文献

[1]
Vanzacaftor-tezacaftor-deutivacaftor versus elexacaftor-tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years and older (SKYLINE Trials VX20-121-102 and VX20-121-103): results from two randomised, active-controlled, phase 3 trials.

Lancet Respir Med. 2025-3

[2]
Enhanced Efficacy of Some Antibiotics in the Presence of Silver Nanoparticles Against Clinical Isolate of Recovered from Cystic Fibrosis Patients.

Int J Nanomedicine. 2024

[3]
Modulator-refractory cystic fibrosis: Defining the scope and challenges of an emerging at-risk population.

Ther Adv Respir Dis. 2024

[4]
Precision medicine advances in cystic fibrosis: Exploring genetic pathways for targeted therapies.

Life Sci. 2024-12-1

[5]
Current landscape of cystic fibrosis gene therapy.

Front Pharmacol. 2024-10-8

[6]
CRISPR/Cas9 technology for advancements in cancer immunotherapy: from uncovering regulatory mechanisms to therapeutic applications.

Exp Hematol Oncol. 2024-10-19

[7]
Treatment of Psychological Symptoms in Patients with Cystic Fibrosis.

J Clin Med. 2024-9-28

[8]
Cystic fibrosis.

Nat Rev Dis Primers. 2024-8-8

[9]
Update on advances in cystic fibrosis towards a cure and implications for primary care clinicians.

Curr Probl Pediatr Adolesc Health Care. 2024-6

[10]
CRISPR-Based Gene Therapies: From Preclinical to Clinical Treatments.

Cells. 2024-5-8

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