Cystic Fibrosis


Cystic fibrosis is an inherited disease that causes thick, sticky mucus to build up in the lungs and digestive tract. It is one of the most common type of chronic lung disease in children and young adults, and may result in early death.


Cystic fibrosis (CF) is caused by a defective gene which tells the body to produce abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and the pancreas, the organ that helps to break down and absorb food.

This collection of sticky mucus results in life-threatening lung infections and serious digestion problems. The disease may also affect the sweat glands and a man’s reproductive system.

Millions of Americans carry the defective CF gene, but do not have any symptoms. That’s because a person with CF must inherit two defective CF genes — one from each parent. An estimated 1 in 29 Caucasian Americans have the CF gene. The disease is the most common, deadly, inherited disorder affecting Caucasians in the United States. It’s more common among those of Northern or Central European descent.

Most children with CF are diagnosed by age 2. A small number, however, are not diagnosed until age 18 or older. These patients usually have a milder form of the disease.

Because there are more than 1,000 mutations of the CF gene, symptoms differ from person to person. But in general they include:

  • Belly pain from severe constipation
  • Coughing or increased mucus in the sinuses or lungs
  • Delayed growth
  • Fatigue
  • Infants may have salty-tasting skin
  • No bowel movements in first 24 to 48 hours of life
  • Stools that are pale or clay colored, foul smelling, or that float
  • Recurrent respiratory infections such as pneumonia or sinusitis
  • Weight loss, or failure to gain weight normally in childhood


A blood test is available to help detect CF. The test looks for variations in a gene known to cause the disease. Other tests use to diagnose CF include:

  • Immunoreactive trypsinogen (IRT) test is a standard newborn screening test for CF. A high level of IRT suggests possible CF and requires further testing.
  • Sweat chloride test is the standard diagnostic test for CF. A high salt level in the patient’s sweat is a sign of the disease.

Other tests that identify problems that can be related to cystic fibrosis include:

  • Chest x-ray or CT scan
  • Fecal fat test
  • Lung function tests
  • Measurement of pancreatic function
  • Trypsin and chymotrypsin in stool
  • Secretin stimulation test
  • Upper GI and small bowel series


An early diagnosis of CF and a comprehensive treatment plan can improve both survival and quality of life. Specialty clinics for cystic fibrosis may be helpful and can be found in many communities.

Treatment for lung problems includes:

  • Antibiotics to prevent and treat lung and sinus infections
  • Inhaled medicines to help open the airways
  • DNAse enzyme replacement therapy to thin mucus and make it easier to cough up
  • Lung transplant, in some cases

Treatment for intestinal and nutritional problems may include:

  • A special diet to help with nutrition (see: Cystic fibrosis nutritional considerations)
  • Pancreatic enzymes to replace those that are missing
  • Vitamin supplements, especially vitamins A, D, E, and K

The most common complications are chronic respiratory infections.

  • Coughing up blood
  • Chronic respiratory failure
  • Cor pulmonale
  • Diabetes
  • Liver disease
  • Malnutrition
  • Osteoporosis and arthritis
  • Pneumonia, recurrent
  • Pneumothorax


If you have a child with cystic fibrosis, one of the best things you can do is to learn as much as possible about the disease. Diet, medication and early recognition of infection are important.

Also important for most patients is performing daily chest percussion to drain mucus from your child’s lungs. Your doctor or respiratory therapist can show you the best way to perform this lifesaving procedure.

In addition, the following steps can help aid your child’s health:

  • Keep your child’s immunizations up to date. In addition to other usual childhood vaccines, this includes the pneumococcal and influenza vaccines. Cystic fibrosis doesn’t affect the immune system, but children with cystic fibrosis are more likely to develop complications when they become sick.
  • Encourage your child to lead as normal and active a life as possible. Exercise is extremely important for people of all ages who have cystic fibrosis. Regular exercise helps loosen mucus in your airways and strengthens your heart and lungs. And for many people with cystic fibrosis, participating in sports can improve confidence and self-esteem. It isn’t necessary to take part in an organized sport or take classes at a gym. Anything that gets you moving, including walking and biking, can help.
  • Make sure your child eats a healthy diet. Be sure to discuss your child’s dietary needs with your doctor or a nutritionist.
  • Use nutrition supplements. Provide the fat-soluble vitamin supplements and pancreatic enzymes your child needs to stay as healthy as possible.
  • Emphasize liquids. Encourage your child to drink plenty of liquids to help loosen the mucus. This is especially important in the summer when children are active and tend to lose a lot of fluids.
  • Eliminate smoke. Don’t smoke in your home or car, and don’t allow other people to smoke around your child. Secondhand smoke is harmful for everyone, but especially for people with cystic fibrosis.
  • Encourage hand washing. Teach everyone in your family to wash their hands thoroughly before eating, after using the bathroom, when coming home from work or school, and after being around a person who is sick. Hand washing is the best way to protect against infection.

Today, the average life span for persons with CF who live to adulthood is approximately 35 years, a dramatic increase over the last three decades. Death is usually caused by lung complications.


After you or someone you love receives a diagnosis of cystic fibrosis, you’re likely to experience many emotions, including anger, concern, guilt and fear. These issues are especially common in teens. All are normal responses. Talking openly about how you feel can help. It may also help to talk with others who are dealing with the same issues.

That might mean joining a support group for parents of children with cystic fibrosis. Older children with the disorder may want to join a cystic fibrosis group to meet and talk with others who have the disease. Psychologists are often an important part of the care team as the child approaches the teen years.

Support groups aren’t for everyone. But often members of these groups can share information, experiences and solutions about the unique challenges associated with cystic fibrosis. If a support group isn’t available in your area, you might consider Cystic-L, an e-mail support group for people with cystic fibrosis. Or, you may want to talk with another family who is dealing with the disease. Learning how others meet certain challenges may help you find solutions that work for you.

Helping a child live normally
It’s natural for parents to want to protect their children, especially when the child has a chronic illness. But the best gift you can give a child with cystic fibrosis is a sense of normalcy. Most children with cystic fibrosis go to school, participate in sports and have active social lives. In time they may graduate from college and embark on careers, and many marry and raise families. Encouraging your child to be independent and self-reliant can help him or her have the fullest life possible.

Preparing for the future also is key. Parents of a child with cystic fibrosis need to plan for their child’s education and financial future, just as they would for any other child.

Still, no matter how hard parents try to make life normal, children with cystic fibrosis often feel different. Even young children soon learn that not everyone has chest physical therapy or takes a handful of pills before each meal. But teenagers, who can be agonizingly self-conscious anyway, may feel their difference the most.

You can help your child by talking about cystic fibrosis as soon as possible. Just what you say will depend on your child’s age and personality. In general, help your child understand what cystic fibrosis is and why eating a healthy diet, taking enzymes and having chest physical therapy are important. Also teach your child to talk to others about cystic fibrosis in a straightforward way. Have your child explain that coughing helps clear the lungs and enzymes help digest food.

Concerns of teenagers
Teenagers, especially, may feel embarrassed about their cough, their slenderness and their medications. Most of all, they may worry that their illness will keep them from having a normal social life. And in fact, all the turbulence and difficulty of adolescence is compounded for teenagers with cystic fibrosis. Yet many teens find that being frank and open about cystic fibrosis can ease some of their concerns.

Still, adolescents understandably may want to pretend they don’t have cystic fibrosis. They may rebel against dietary restrictions, treatments and medications. And like other teenagers they may start to smoke. But normal rebelliousness can be life-threatening for young people with cystic fibrosis. If your teen is resisting treatment, a counselor, psychologist or social worker may be able to help.

At the same time, you can boost your child’s confidence and sense of normalcy by not being overly rigid. Don’t be concerned if your child misses a chest therapy session now and then in order to participate in some activity. The goal is to help your child learn to live with cystic fibrosis, not to make it a way of life.

Marriage and family
Young adults with cystic fibrosis can’t always be as carefree and spontaneous in their relationships as other young people can. But many resources are available that can make dealing with issues of marriage and intimacy easier. These include genetic counseling, fertility evaluation and financial counseling. Be sure to discuss your concerns with your doctor or a cystic fibrosis social worker.  Cystic Fibrosis Foundation-Home