Cystic fibrosis

Abstract

Cystic fibrosis is a complex genetic disease that primarily affects the lungs and digestive system due to mutations in the CFTR gene. The objective was to synthetically analyze the existing information on cystic fibrosis through a bibliographic review to interpret recent advances in its understanding, diagnosis, treatment, and clinical management. An exhaustive review was conducted in PubMed, including articles published between 2018 and 2023. The selected studies addressed various aspects of cystic fibrosis, such as the genetic variability of the CFTR gene, factors influencing nutrition and the use of gastrostomy tubes, among others. The results highlighted the importance of including regional genetic variants in testing, the benefits and complications of using gastrostomy tubes, the potential of nanotechnology to improve drug delivery, and the effectiveness of non-invasive methods for hepatic assessment. Additionally, key characteristics for the early diagnosis of pulmonary exacerbations were identified, and the positive impact of lung transplantation and triple therapy on quality of life and lung function was evaluated. In conclusion, this review underscores the need for a multidisciplinary and personalized approach in the management of cystic fibrosis, highlighting recent advances and areas requiring further research.