DISEASE SCANNER
Global Incurable Diseases Tracker
Cystic Fibrosis
An autosomal recessive disorder caused by mutations in the CFTR gene on chromosome 7, affecting chloride ion transport. Results in thick, sticky mucus buildup in lungs, pancreas, and other organs, leading to severe respiratory and digestive problems.
70.0K
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Dramatically improved with CFTR modulators. Median survival now 50+ years with modulators. Without modulators: 40-45 years. Transplant adds 5-10 years for end-stage patients. Quality of life greatly improved.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Trikafta (elexacaftor/tezacaftor/ivacaftor) transforms treatment for ~90% of patients. Gene therapy (4D-710) and mRNA therapies in clinical trials. Life expectancy increased to 50+ years with treatment.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.