Cystic fibrosis facts*

*Cystic fibrosis facts medical author:Melissa Conrad Stppler, MD

Cystic fibrosis (CF) is an inherited disease that affects the secretory glands, including the mucus and sweat glands. Cystic fibrosis mostly affects the lungs, pancreas,liver, intestines, sinuses, and sex organs. CF is due to a mutation in the CF gene on chromosome 7. The CF gene encodes a protein known as the cystic fibrosis transmembrane regulator (CFTR). The abnormal CFTR protein in patients with CF leads to disruption of chloride channels on the cells. CF is characterized by the production of abnormal mucus that is excessively thick and sticky. The abnormal mucus leads to blockages within the lungs and airways. This leads to repeated, serious lung infections that can damage the lungs. Lung function often starts to decline in early childhood in people who have cystic fibrosis. Over time, permanent damage to the lungs can cause severe breathing problems. The thick, sticky mucus also can block tubes, or ducts, in the pancreas. As a result, the digestive enzymes from the pancreas can't reach the small intestine, causing impaired absorption of fats and proteins. This can cause vitamin deficiency and malnutrition. Due to the defect in chloride channels, CF fibrosis also causes the sweat to become very salty. Every person inherits two CFTR genes -- one from each parent. CF is inherited in an autosomal recessive manner; children who inherit a faulty gene from each parent will have cystic fibrosis. Children who inherit one faulty gene and one normal gene will be "CF carriers." Cystic fibrosis carriers usually have no symptoms of cystic fibrosis, but they can pass the faulty gene on to their children. About 30,000 people in the United States have cystic fibrosis. It is one of the most common inherited diseases among Caucasians. About 1,000 new cases of cystic fibrosis are diagnosed each year. The symptoms of cystic fibrosis vary from person to person and over time. Doctors diagnose cystic fibrosis based on the results from various tests. The most commonly used test is a sweat chloride test, which measures the concentration of chloride in sweat. Direct genetic testing to identify the CF mutation is also used. Most U.S. States screen newborns for cystic fibrosis. Cystic fibrosis has no cure. However, treatments have greatly improved in recent years. Treatment may include nutritional and respiratory therapies, medicines, exercise, and more. Early treatment for cystic fibrosis can improve both quality of life and lifespan.

As treatments for cystic fibrosis continue to improve, so does life expectancy for those who have the disease. Today, some people who have cystic fibrosis are living into their forties, fifties, and older.

What is cystic fibrosis?

Cystic fibrosis (SIS-tik fi-BRO-sis), or CF, is an inherited disease of the secretory (see-KREH-tor-ee) glands. Secretory glands include glands that make mucus and sweat. "Inherited" means the disease is passed from parents to children through genes. People who have CF inherit two faulty genes for the disease -- one from each parent. The parents likely don't have the disease themselves. CF mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs. Mucus is a substance made by tissues that line some organs and body cavities, such as the lungs and nose. Normally, mucus is a slippery, watery substance. It keeps the linings of certain organs moist and prevents them from drying out or getting infected. If you have CF, your mucus becomes thick and sticky. It builds up in your lungs and blocks your airways. (Airways are tubes that carry air in and out of your lungs.) The buildup of mucus makes it easy for bacteria to grow. This leads to repeated, serious lung infections. Over time, these infections can severely damage your lungs. The thick, sticky mucus also can block tubes, or ducts, in your pancreas (an organ in your abdomen). As a result, the digestive enzymes that your pancreas makes can't reach your small intestine. These enzymes help break down food. Without them, your intestines can't fully absorb fats and proteins. This can cause vitamin deficiency and malnutrition because nutrients pass through your body without being used. You also may have bulky stools, intestinal gas, a swollen belly from severeconstipation, and pain or discomfort. CF also causes your sweat to become very salty. Thus, when you sweat, you lose large amounts of salt. This can upset the balance of minerals in your blood and cause many health problems. Examples of these problems include dehydration (a lack of fluid in your body), increased heart rate,fatigue (tiredness), weakness, decreased blood pressure, heat stroke, and, rarely, death. If you or your child has CF, you're also at higher risk for diabetes or a bone-thinning condition called osteoporosis (OS-te-o-po-RO-sis).

CF also causes infertility in men, and the disease can make it harder forwomen to get pregnant. (The term "infertility" refers to the inability to have children.)

What are other names for cystic fibrosis?

Cystic fibrosis of the pancreas Fibrocystic disease of the pancreas Mucoviscidosis (MU-ko-vis-ih-DO-sis) Mucoviscidosis of the pancreas Pancreas fibrocystic disease Pancreatic cystic fibrosis

What causes cystic fibrosis?

A defect in the CFTR gene causes cystic fibrosis (CF). This gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat. Research suggests that the CFTR protein also affects the body in other ways. This may help explain other symptoms and complications of CF. More than a thousand known defects can affect the CFTR gene. The type of defect you or your child has may affect the severity of CF. Other genes also may play a role in the severity of the disease.

Is cystic fibrosis inherited?

Every person inherits two CFTR genes -- one from each parent. Children who inherit a faulty CFTR gene from each parent will have CF. Children who inherit one faulty CFTR gene and one normal CFTR gene are "CF carriers." CF carriers usually have no symptoms of CF and live normal lives. However, they can pass the faulty CFTR gene to their children. The image below shows how two parents who are both CF carriers can pass the faulty CFTR gene to their children.

Example of an Inheritance Pattern for Cystic Fibrosis The image shows how CFTR genes are inherited. A person inherits two copies of the CFTR gene -one from each parent. If each parent has a normal CFTR gene and a faulty CFTR gene, each child has a 25 percent chance of inheriting two normal genes; a 50 percent chance of inheriting one normal gene and one faulty gene; and a 25 percent chance of inheriting two faulty genes.