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Understanding Cystic Fibrosis: The Basics

Cystic fibrosis is an incurable genetic disease that affects the glands that produce mucus and sweat. It causes mucus to become thick and sticky.

As the mucus builds up, it can block airways in the lungs. This makes it increasingly difficult to breathe.

Mucus buildup also encourages the growth of bacteria. This can cause frequent, damaging infections in the lungs.

Mucus buildup can also prevent necessary digestive enzymes from reaching your intestines. The body needs these enzymes to process the nutrients in the food that you eat, such as vitamins and minerals.

People with cystic fibrosis also lose large amounts of salt when they sweat. This can cause an unhealthy imbalance of minerals in your blood. It can lead to:

Dehydration
Fatigue
Weakness
Increased heart rate
Low blood pressure
Heat stroke
Death in rare cases

About 30,000 Americans have cystic fibrosis. Each year about 1,000 new cases are diagnosed.

Nowadays people with cystic fibrosis generally live into their mid-30s. Sixty years ago, the disease killed most people before they reached elementary school.

What Causes Cystic Fibrosis?

Cystic fibrosis is a genetic disease. That means you are born with it, having inherited the abnormal gene that causes it from your parents.

Both parents must be carriers of the gene that causes the disease. Twenty-five percent of the children of such parents will be diagnosed with cystic fibrosis.

Boys and girls are equally likely to get the disease. About 10 million Americans carry the gene and do not know it. Many more whites get the disease than people of other races.

What Are the Symptoms of Cystic Fibrosis?

The symptoms of cystic fibrosis may not always be apparent at birth. Occasionally, they are mild enough to go unnoticed. Over time the symptoms become more severe and require special treatment. The most common symptoms include:

Salty-tasting skin
Persistent cough that produces phlegm
Lung infections caused by bacteria
Frequent cases of sinusitis, bronchitis, or pneumonia
Shortness of breath and wheezing
Growths in the nose (nasal polyps)
Poor weight gain and growth
Persistent diarrhea or bulky, foul-smelling, and greasy stool

Over time, the symptoms of cystic fibrosis will likely worsen and may include:

Pancreatitis, a painful inflammation of the pancreas
Liver disease
Diabetes
Gallstones

How Is Cystic Fibrosis Diagnosed?

A genetic test, which can be done before birth, will determine if your baby has a faulty CFTR gene. This is the gene responsible for cystic fibrosis.

Every state now screens newborns for cystic fibrosis. Blood testing will show whether your baby's pancreas is functioning the way it should.

If the testing indicates possible cystic fibrosis, a sweat test will be given. A high salt level in your baby's sweat will confirm the diagnosis.

After diagnosis, the doctor may order additional tests. These tests will measure lung function and check for bacterial growth in the sputum, or spit. The tests will help determine how far the disease has advanced.

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