Cystic Fibrosis (CF) is a genetic disorder that causes thick, sticky mucus to build up in the lungs, digestive tract, and other organs. This mucus blocks airways and obstructs pancreatic ducts, preventing the release of enzymes needed to digest food.

CF is caused by mutations in the CFTR gene. A normal CFTR gene regulates the production of mucus, sweat, saliva, tears, and digestive enzymes. In contrast, a dysfunctional CFTR gene leads to abnormally thick secretions and impaired enzyme function.

CF affects over 160,000 people worldwide, ranging from children to adults. Sadly, some children do not survive childhood due to severe complications. Symptoms include:

Respiratory issues: Persistent cough, wheezing, shortness of breath, and frequent lung infections.
Digestive problems: Severe constipation or diarrhea, poor weight gain, and salty-tasting skin.
Other effects: Clubbing of fingers and toes, delayed puberty, and fertility issues in both sexes.

Diagnosis typically involves a sweat test to detect elevated chloride levels. Newborn screening and genetic testing (to identify specific CFTR mutations) are also widely used.

CF patients face significantly higher risks of colon cancer (5-10 times higher general population; 25 -30 times higher post-transplant) due to CFTR’s role as a tumor suppressor. Risks of pancreatic , cervical, and breast cancer are also increased.

Antimicrobial resistance (AMR) is a critical concern for CF patients, who rely on antibiotics to manage lung infections. Since 2017, only 12 new antibiotics have been approved, underscoring the urgent need for innovative treatments.

For advanced CF lung disease, lung transplant may be necessary, but receipts face heightened cancer risk post-transplant. Despite medical advancements, lung disease remains the leading cause of death in CF. Post-lung transplant risks for Cystic Fibrosis (CF) patients include the increased rates of infection and cancer, chronic kidney disease, and the continued presence of CF in other organs, but these are manageable with vigilant care. Early fears about infection and recurrence in the new lungs have lessened, with successful transplants offering improved quality life by eliminating the need for burdensome airway clearance. Managing CF-related issues like sinus disease, gastroin-testinal problems, and diabetes remains crucial, and a coordinated care approach between CF and transplant teams is essential for optimal outcomes.

Since its discovery in 1938, CF care has improved dramatically-life expectancy has risen from 6 months to over 65 years today. However, no cure exists, and ongoing research is essential.