Cystic Fibrosis

Overview

Cystic Fibrosis (CF) is a progressive genetic disease that affects the lungs, pancreas, liver, and other organs. There are mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which cause the CFTR protein to become dysfunctional. When the CFTR protein is not working correctly it is unable to help move chloride to the surface of the cell. Without chloride to attract water to the cell’s surface, the mucus in various organs becomes very sticky and thick. ​

Most notably in CF the mucus in the lungs clogs the airways and traps germs. The bacteria being trapped in the lungs can lead to infections, inflammation, and respiratory failure. In the pancreas, the mucus prevents pancreatic enzymes from digesting food which can lead to malabsorption and fatty stools. When mucus builds up in the liver it can block the bile duct and cause liver disease. ​

There is no cure for CF, however scientific advances have greatly improved the quality of life for patients. The treatments for cystic fibrosis include multiple inhaled and oral medications that help to clear airways and provide nutritional support. ​

Resources

Cystic Fibrosis Foundation
https://www.cff.org/

What is Cystic Fibrosis?
https://www.nhlbi.nih.gov/health/cystic-fibrosis