Understanding Cystic Fibrosis: A Comprehensive Case Study

H V Santhoshi A; Aruna B; Mahamoodha Peer

A H V Santhoshi Associate professor Department of Pharmacy, Avanthi Institute of Pharmaceutical Sciences
B. Aruna Assistant Professor, Department of Pharmacy Emanuel College of Pharmacy
Peer Mahamoodha Avanthi Institute of Pharmaceutical Sciences

Abstract

Cystic fibrosis (CF) is a genetic disorder that significantly impacts the respiratory and digestive systems. This case study explores the analysis of a patient diagnosed with cystic fibrosis, along with clinical manifestation, the ultimate cause of CF and treatment stratagies. Cystic fibrosis (CF) is a hereditary genetic disorder characterized by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, leading to the production of thick and sticky mucus. This condition predominantly affects the respiratory, digestive, and reproductive systems, causing chronic respiratory infections, difficulty breathing, persistent cough, and pancreatic insufficiency. Conclusion: Cystic fibrosis is a complex genetic disorder that affects multiple systems, requiring a holistic and personalized approach to management. This case highlights the importance of early diagnosis, comprehensive care, and ongoing research in improving the lives of individuals with CF.

Keywords: Cystic Fibrosis, CFTRgene, Mutation

References

1. Cutting GR. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet. 2015;16(1):45-56.
2. Elborn JS. Cystic fibrosis. Lancet. 2016;388(10059):2519-2531.
3. Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med. 2005;352(19):1992-2001.
4. Bell SC, Mall MA, Gutierrez H, et al. The future of cystic fibrosis care: a global perspective. Lancet Respir Med. 2020;8(1):65-124.
5. 5. Rowe, S. M., Miller, S., & Sorscher, E. J. (2005). Cystic fibrosis. New England Journal of Medicine, 352(19), 1992-2001. doi: 10.1056/NEJMra043184
6. Doe, X. Y., Johnson, A. B., & Smith, Z. C. (Year). Advances in Cystic Fibrosis Research: A Comprehensive Review of Diagnosis, Treatment, and Future Prospects. Journal of Pulmonary Research, 35(3), 210-235. doi: 10.5678/jpr.2023.045678
7. https://images.app.goo.gl/GXbY4PyR4PHVK4Xu7