| Abstract [eng] |
This thesis is a narrative literature review of cystic fibrosis, focusing on the effects of modern CFTR modulators. Cystic fibrosis is a genetic disorder caused by mutations in the CFTR gene, leading to impaired chloride and bicarbonate transport, excessive mucus production, and progressive organ damage, particularly in the lungs. Progressive airway obstruction, chronic inflammation, and recurrent infections are the primary causes of morbidity and mortality. Treatment was purely symptomatic and did not address the underlying cause. The introduction of CFTR modulators has fundamentally changed this approach by directly targeting the defective CFTR protein. The active ingredients are divided into potentiators, which enhance channel opening, and correctors, which improve protein folding and transport. Clinically, these therapies have been shown to significantly improve long-term function, nutritional status, and quality of life. Furthermore, pulmonary exacerbations are reduced. In particular, the triple combination therapy consisting of Elexacaftor, Tezacaftor, and Ivacaftor represents a breakthrough and offers an effective treatment for many patients. But problems remain, including limited long-term data, varying response rates by mutation type, and unanswered questions about long-term outcomes. In summary, CFTR modulators have the potential to redefine cystic fibrosis as a manageable chronic condition rather than a life-threatening one. Emerging strategies, for example, gene-based therapies, hold promise for further improving long-term outcomes and may ultimately be the way toward a definitive cure. Aim and objectives: This thesis presents a comprehensive review of the literature on cystic fibrosis, with a specific emphasis on the role and clinical impact of CFTR modulators. It examines how CFTR modulator therapy has influenced the disease's pathophysiology, clinical results, and treatment strategies. Additionally, the review evaluates whether this approach provides meaningful advances over traditional therapies. The thesis also offers insights into the future prospects for managing the disease. Materials and methods: A systematic literature search was conducted using databases such as the Cochrane Library, PubMed, Google Scholar, and Amboss, as well as a web search, to identify relevant studies on cystic fibrosis and CFTR modulators. The language was limited to German and English. Results: The treatment enhances long-term function, nutritional health, and quality of life, while decreasing pulmonary exacerbations. The combination of Elexacaftor, Tezacaftor, and Ivacaftor represents a breakthrough, offering effective relief for many patients. 5 Conclusion: CFTR modulators are a major therapeutic advance in cystic fibrosis treatment. They address the defect itself and offer a great chance for future treatment for people with cystic fibrosis. |
