What is Cystic Fibrosis?

Cystic fibrosis is a rare genetic disease that affects the pancreas, lungs, and other organs by causing sticky, thick mucus to build up in these organs.

The mucus is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, causing the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride (a component of salt) to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky. This thick mucus can trap bacteria in the lungs, leading to infection, inflammation, and breathing problems.

Mucus can also block the path where digestive enzymes flow between the pancreas and intestines. This makes it difficult for a child to digest food and get the vitamins and nutrients they need from it. A person with CF has trouble absorbing proteins, fats, and vitamins A, D, E, and K.