Children's Hospital Colorado

Cystic Fibrosis

What is cystic fibrosis?

Cystic fibrosis (CF) is a genetic disorder that affects the lungs, digestive system and other organs in the body. CF disrupts the normal function of epithelial cells, cells that line passageways in the respiratory tract, digestive system, sweat glands and reproductive system. In people with CF, a faulty gene prevents epithelial cells from being able to regulate the way salt passes across cell membranes. This disrupts the essential balance of salt and water needed to maintain a healthy, thin coating of fluid and mucus inside the lungs, pancreas, liver and other organs.

CF affects the body in many ways. In the lungs, thick, sticky mucus clogs the airways and traps germs, like bacteria, leading to lung infections, inflammation and airway damage. In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body absorb fats, proteins and other key nutrients. Children with CF can have problems gaining weight, even with a normal diet and a good appetite. In the liver, the thick mucus can block the bile ducts, causing liver disease.

What causes cystic fibrosis?

CF is a genetic disease, meaning that it is caused by a faulty CF gene. In people with CF, mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein leads to a CFTR protein that doesn’t work properly or an inadequate amount of functional CFTR protein. CFTR protein helps to maintain the balance of salt and water needed for a healthy, thin coating of fluid and mucus inside the body.

Who gets cystic fibrosis?

CF is an inherited disease meaning that it is passed down from parents. People with CF inherit two copies of the abnormal or mutated CF gene, one copy from each parent. Both parents must have at least one copy of the abnormal gene (i.e. they are ‘carriers’ of the mutated gene). There are more than 1,700 known mutations of this gene that can cause CF. The most common mutation in the CF gene is called F508del. Over 80% of people with CF in the U.S. have at least one copy of the F508del mutation.

Caucasians have the highest inherited risk for CF and Asian Americans have the lowest. In the U.S. today, about 1 in 3,000 to 4,000 Caucasian children and 1 in 8,000 to 9,000 Hispanic children are born with CF. This compares with about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans.

Although the chances of inherited risk may vary, CF has been identified in every geographic area of the world, among every ethnic population. More than 30,000 people are living with CF in the U.S. (more than 70,000 worldwide).

Get to know our pediatric experts.

Bridget Raleigh, NP

Bridget Raleigh, NP

Certified Family Nurse Practitioner

Heather Hoch De Keyser, MD

Heather Hoch De Keyser, MD

Pulmonology - Pediatric, Pediatrics

Mark Brown, MD

Mark Brown, MD

Pulmonology - Pediatric, Pediatrics

Children's Colorado in the news

Colorado Public Radio

Children’s Colorado doctors help with research on “revolutionary” cystic fibrosis therapy

noviembre 6, 2019

The newly approved triple-combo drug, Trikafta, has the potential to help 90% of people living with CF and add years to life expectancy.