Cystic Fibrosis

Frequently Asked Questions

What is cystic fibrosis?
How do you get cystic fibrosis?
How common is cystic fibrosis?
How is cystic fibrosis treated?
Where can I obtain services for cystic fibrosis in Missouri?
What services does DHSS offer?
Where can I obtain additional cystic fibrosis resource information?

What is cystic fibrosis?
Cystic fibrosis is an inherited disease of the mucus glands. It causes chronic, progressive damage to the respiratory system, chronic digestive system problems, and can affect other organs.

The signs and symptoms of this disorder are caused by the production of abnormally thick, sticky mucus in the body's organs. Problems with breathing are among the most serious symptoms. Mucus can obstruct the airways and cause bacterial infections in the lungs, leading to chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.

Most people with cystic fibrosis also have digestive problems. Mucus can block the ducts of the pancreas, preventing enzymes produced by that organ from reaching the intestines to help digest food. Problems with digestion can lead to diarrhea, malnutrition, and weight loss. Some babies with cystic fibrosis have meconiumileus, a blockage of the intestine that occurs shortly after birth.

Infertility, or the inability to conceive a child, is common in men with cystic fibrosis, but infrequent in women with the condition.

How do you get cystic fibrosis?
Cystic fibrosis is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected, but are carriers of one copy of the altered gene.

Mutations in the cystic fibrosis conductance regulator (CFTR) gene cause this disease. The protein made by CFTR controls the movement of salt and water into and out of cells. Mutations in CFTR block this movement, causing cells to produce the abnormally thick mucus characteristic of cystic fibrosis.

How common is cystic fibrosis?
Cystic fibrosis is a common genetic disease affecting Caucasians (whites) in the United States. The disease occurs in 1 out of every 3,000 Caucasian births. It also affects other ethnic groups, but is much less common: 1 in 15,000 African Americans and 1 in 31,000 Asian Americans have the disorder.

How is cystic fibrosis treated?
Early recognition of cystic fibrosis and a comprehensive, multidisciplinary treatment program can lengthen survival time and improve quality of life. Specialty clinics for cystic fibrosis can be found in many communities and may be helpful.

Medications include antibiotics for respiratory infections and pancreatic enzymes to replace those which are missing. Vitamin supplements are sometimes prescribed. Inhaled bronchodilators are used to relieve chronic obstruction of the airways.

Other treatments include postural drainage, chest percussion and other breathing treatments.

Lung transplant may be considered in some cases.

New treatments include replacement of the DNAse enzyme. This is available as a medication called dornase (Pulmozyme). Genetic research is ongoing in hopes of correcting the disease by artificially inserting a "normal" gene into the person. This treatment is called gene therapy, and an intranasal form of gene therapy is currently undergoing clinical trials. Research on possible methods which could be used to correct the disorder before birth seems promising.

Where can I obtain services for cystic fibrosis in Missouri?
See the list of Treatment Centers.

What services does DHSS offer?
See the Cystic Fibrosis Fact Sheet (.pdf)

Where can I obtain additional cystic fibrosis resource information?
See the list of resource information.

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