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Cystic fibrosis


Causes, incidence, and risk factors:

Cystic fibrosis (CF) is caused by a defective gene which causes the body to produce abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and in 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.

Signs and tests:

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:

Support Groups:

For additional information and resources, see: Cystic fibrosis support group

Expectations (prognosis):

Most children with cystic fibrosis are fairly healthy until they reach adulthood. They are able to participate in most activities and should be able to attend school. Many young adults with cystic fibrosis finish college or find employment.

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 approximately 37 years, a dramatic increase over the last three decades.

Death is usually caused by lung complications.

Complications:

The most common complication is chronic respiratory infection.

Calling your health care provider:

Call your health care provider if an infant or child has symptoms of cystic fibrosis.

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

Call your health care provider if you or your child experiences:

  • Fever, increased coughing, changes in sputum or blood in sputum, loss of appetite, or other signs of pneumonia
  • Increased weight loss
  • More frequent bowel movements or stools that are foul-smelling or have more mucus
  • Swollen belly or increased bloating
Prevention:

There is no way to prevent cystic fibrosis. Screening those with a family history of the disease may detect the cystic fibrosis gene in 60 - 90% of carriers, depending on the test used.

References:

Flume PA, Mogayzel PJ Jr, Robinson KA, Rosenblatt RL, Quittell L, Marshall BC; Clinical Practice Guidelines for Pulmonary Therapies Committee; Cystic Fibrosis Foundation Pulmonary Therapies Committee. Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. Am J Respir Crit Care Med. 2010 Aug 1;182(3):298-306.

Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic fibrosis consensus report. Journal of Pediatrics. Aug 2008;153(2).

Stallings VA, Stark LF, Robinson KA, Feranchak AP, Quinton H. Evidence-based practice recommendations for nutrition-related management of children and adults with cystic fibrosis and pancreatic insufficiency: Results of a systematic review. Journal of the American Dietetic Association. May 2008;108(5).

Mogayzel PJ Jr, Flume PA. Update in cystic fibrosis 2009. Am J Respir Crit Care Med. 2010 Mar 15;181(6):539-44.

Borowitz D, Robinson KA, Rosenfeld M, et al. Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. J Pediatr. 2009 Dec;155(6 Suppl):S73-93.


Review Date: 5/16/2012
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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