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Cystic fibrosis


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.

Millions of Americans carry a CF gene, but do not have symptoms. This is because a person with CF must inherit two defective genes, one from each parent. About 1 in 29 Caucasian 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.

Exams and Tests:

A blood test is available to help detect CF. The test looks for changes in a gene known to cause the disease. Other tests used 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:

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 cystic fibrosis stay in good health until they reach adulthood. They are able to take part in most activities and attend school. Many young adults with cystic fibrosis 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:

  • Bowel problems, such as gallstones, intestinal blockage, and rectal prolapse
  • Coughing up blood
  • Chronic respiratory failure
  • Diabetes
  • Infertility
  • Liver disease or liver failure, pancreatitis, biliary cirrhosis
  • Malnutrition
  • Nasal polyps and sinusitis
  • Osteoporosis and arthritis
  • Pneumonia that keeps coming back
  • Pneumothorax
  • Right-sided heart failure (cor pulmonale)
When to Contact a Medical Professional:

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:

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

References:

Accurso FJ. Cystic fibrosis. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 89.

Egan M. Cystic fibrosis. In: Kliegman RM, Stanton BF, St. Geme JW III, et al., eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 395.

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: 5/14/2014
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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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