Cystic fibrosis is a hereditary disease that causes certain glands to produce abnormal secretions, resulting in tissue and organ damage, especially in the lungs and the digestive tract.
Cystic fibrosis is the most common inherited disease leading to a shortened life spanand is found equally common in boys and girls.
A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that
clogs the lungs and leads to life-threatening lung infections and
obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.
Cystic Fibrosis : Not Just a Lung Disease
In the lungs, thick bronchial secretions block the small airways, which become inflamed. As the disease progresses, the bronchial walls thicken, the airways fill with infected secretions, areas of the lung contract, and lymph nodes enlarge. In the liver, thick secretions block the bile ducts. Obstruction may also occur in the gallbladder.
In the pancreas, thick secretions may block the gland completely. In the small intestine, intestinal obstruction (meconium ileus) can result from thick secretions and requires surgery in some newborns. The reproductive organs are affected by cystic fibrosis in various ways, often resulting in infertility. The sweat glands in the skin and small salivary glands in the cheek (parotid glands) secrete fluids containing more salt than normal.
Cystic fibrosis results when a person inherits two defective copies (mutations) of a particular gene. This gene controls the production of a protein that regulates the transport of chloride and sodium (salt) across cell membranes. Worldwide, about 3 of 100 white people carry one defective copy of the gene; thus, they are carriers but they themselves do not get sick.
In these people, chloride and sodium transport is disrupted and dehydration and increased stickiness of secretions occur.
Cystic fibrosis affects many organs throughout the body and nearly all the glands that secrete fluids into a duct (exocrine glands). The secretions are abnormal in different ways, and they affect gland function differently. In some glands, such as the pancreas, the secretions are thick or solid and may block the gland completely. Eventually, the pancreas can become scarred. The mucus-producing glands in the airways of the lungs produce abnormal secretions that clog the airways and allow bacteria to multiply. The sweat glands and small salivary glands in the cheek (parotid glands) secrete fluids containing more salt than normal.
- About 1,000 new cases of cystic fibrosis are diagnosed each year.
- More than 70% of patients are diagnosed by age two.
- More than 40% of the CF patient population is age 18 or older.
Today, advances in research and medical treatments have further enhanced and extended life for children and adults with CF. Many people with the disease can now expect to live into their 30s, 40s and beyond. Thanks to the dedication and financial backing of our supporters, patients, families and friends, clinicians, researchers, volunteers, individual donors, corporations and staff, we are making a difference.