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Cystic fibrosis

CF

Cystic fibrosis is a disease that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body. It is one of the most common chronic lung diseases in children and young adults. It is a life-threatening disorder.

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Clubbing
Postural drainage
Clubbed fingers
Cystic fibrosis

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Causes

Cystic fibrosis (CF) is a disease that is passed down through families. It is caused by a defective gene that makes the body produce abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and in the pancreas.

The buildup of 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.

Many people carry a CF gene, but do not have symptoms. This is because a person with CF must inherit 2 defective genes, 1 from each parent. Some white Americans have the CF gene. It is more common among those of northern or central European descent.

Most children with CF are diagnosed by age 2. For a small number, the disease is not detected until age 18 or older. These children often have a milder form of the disease.

Symptoms

Symptoms in newborns may include:

Symptoms related to bowel function may include:

Symptoms related to the lungs and sinuses may include:

Symptoms that may be noticed later in life:

Exams and Tests

A blood test is done to help detect CF. The test looks for changes in the CF gene. Other tests used to diagnose CF include:

Other tests that identify problems that can be related to CF include:

Treatment

An early diagnosis of CF and treatment plan can improve both survival and quality of life. Follow-up and monitoring are very important. When possible, care should be received at a cystic fibrosis specialty clinic. When children reach adulthood, they should transfer to a cystic fibrosis specialty center for adults.

Treatment for lung problems includes:

Lung problems are also treated with therapies to thin the mucus. This makes it easier to cough the mucus out of the lungs.

These methods include:

Treatment for bowel and nutritional problems may include:

Ivacaftor and Lumacaftor are medicines that treat certain types of CF. They improve the function of one of the defective genes that causes CF. As a result, there is less buildup of thick mucus in the lungs. Other CF symptoms are improved as well.

Care and monitoring at home should include:

Support Groups

You can ease the stress of illness by joining a cystic fibrosis support group. Sharing with others who have common experiences and problems can help your family to not feel alone.

Outlook (Prognosis)

Most children with CF stay in good health until they reach adulthood. They are able to take part in most activities and attend school. Many young adults with CF finish college or find jobs.

Lung disease eventually worsens to the point where the person is disabled. Today, the average life span for people with CF who live to adulthood is about 37 years.

Death is most often caused by lung complications.

Possible Complications

The most common complication is chronic respiratory infection.

Other complications include:

When to Contact a Medical Professional

Call your provider if an infant or child has symptoms of CF, and experiences:

Call your provider if a person with CF develops new symptoms or if symptoms get worse, particularly severe breathing difficulty or coughing up blood.

Prevention

CF cannot be prevented. Screening those with a family history of the disease may detect the CF gene in many carriers.

Related Information

Collapsed lung (pneumothorax)
Coughing up blood
Chronic obstructive pulmonary disease (COPD)
Cor pulmonale
Diabetes
Osteoporosis - overview
Arthritis
Newborn screening tests
Enteral nutrition - child - managing problems
Gastrostomy feeding tube - bolus
Jejunostomy feeding tube
Postural drainage
How to breathe when you are short of breath

References

Accurso FJ. Cystic fibrosis. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 89.

Egan ME, Green DM, Voynow JA. Cystic fibrosis. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 403.

Farrell PM, White TB, Ren CL, et al.  Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017;181S:S4-S15.e1. PMID: 28129811 www.ncbi.nlm.nih.gov/pubmed/28129811.

Rowe SM, Hoover W, Solomon GM, Sorscher EJ. Cystic fibrosis. In: Broaddus VC, Mason RJ, Ernst JD, et al, eds. Murray and Nadel's Textbook of Respiratory Medicine. 6th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 47.

Taylor-Cousar JL, Munck A, McKone EF,  et al. Tezacaftor-ivacaftor in patients with cystic fibrosis homozygous for phe508del. N Engl J Med. 2017;377(21):2013-2023.  PMID: 29099344  www.ncbi.nlm.nih.gov/pubmed/29099344.

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Review Date: 2/19/2018  

Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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