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Cystic Fibrosis (CF)
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Cystic Fibrosis (CF)

En Español (Spanish Version)

Definition

Cystic fibrosis (CF) is an inherited disease characterized by obstruction and infection of the respiratory system, and by malabsorption. Multiple other organ systems may be affected.

Cystic Fibrosis

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© 2008 Nucleus Medical Art, Inc.

Causes

CF is an autosomal recessive disorder, which means that the child inherits one defective gene from each parent. Usually the parents do not have the disease but have a defective gene that can be passed to the their children. These parents are called carriers. The fundamental defect in CF is an inability of epithelial (or lining) cells to secrete chloride appropriately in response to chemical signals. The resulting mucus produced is very thick and rubbery.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition.

  • Parents who are known carriers of the CF gene
  • Siblings with CF
  • Parents with CF

Symptoms

The abnormally thick mucus of CF blocks certain organs, causing many of the symptoms of CF.

Symptoms include:

  • In infants:
    • Difficulty passing the first stool (meconium)
    • Meconium ileus, or intestinal obstruction (sometimes requires surgery)
  • Trouble gaining weight
  • Poor growth pattern
  • Failure to thrive
  • Malnutrition
  • Bulky, bad-smelling, floating stools, due to poor digestion of fats
  • Coughing and wheezing
  • Repeated pneumonia
  • Shortness of breath
  • Difficulty with exercise
  • Salty skin
  • Abnormally shaped clubbed finger tips
  • Barrel chest
  • Nasal polyps
  • Severe, chronic sinusitis
  • Pancreatitis
  • Insulin-dependent diabetes
  • Gallstones
  • Liver cirrhosis
  • Mildly decreased fertility in females
  • No sperm production in males

CF is a serious life-long condition that significantly reduces longevity and results in illness and poor health for most affected individuals. Girls tend to be affected more severely than are boys. However, there is great variability in the severity of illness, and some persons with relatively mild forms of cystic fibrosis can live to age 60 or beyond.

Diagnosis

The doctor will ask about symptoms and medical history, and perform a physical exam. CF is suspected in a child with classic symptoms, especially if a sibling has CF.

Tests may include:

  • Sweat chloride testing (still the standard for making a diagnosis of CF)
  • DNA testing
  • Nasal potential difference measurement
  • Chest and/or sinus x-rays
  • Tests of pancreatic function
  • Lung function tests
  • Newborn screening

Treatment

There is no treatment to cure CF. Treatment is aimed at:

  • Preventing and treating lung infections
  • Keeping the airways and lungs as clear as possible
  • Improving nutritional status

Treatment for CF includes:

  • Childhood immunizations
  • Enzyme tablets with meals to improve digestion and absorption of nutrients
  • Insulin shots if the pancreas stops producing insulin
  • High-calorie diet planned by a registered dietician
  • Nutritional supplements, including fat-soluble vitamins
  • Chest percussion and postural drainage or high-frequency chest wall oscillation (may help clear mucus from airways)
  • Inhaled and/or systemic antibiotics to treat respiratory infections
  • Medications to keep the airways clear, including:
    • Theophylline (rarely used today)
    • Bronchodilators
    • Steroid inhalers
    • DNase
    • Acetylcysteine
    • Nonsteroidal anti-inflammatory drugs (uncommonly used)
  • Drinking lots of fluids, especially in hot weather or when ill
  • Surgery (may be required to treat intestinal obstruction)
  • Oxygen therapy (may be required as the disease progresses)
  • Lung and liver transplants (possible)

Researchers are exploring gene therapy to slow the progression of CF, or even cure it.

Prevention

If you have the defective genes, there is no way to prevent the development of CF. Adults can be tested to see if they carry the defective gene before having children. Prenatal testing can determine if a baby will have CF, but the availability of this testing raises many important ethical questions.

RESOURCES:

American Academy of Pediatrics
http://www.aap.org

American Lung Association
http://www.lungusa.org

Cystic Fibrosis Foundation
http://www.cff.org

CANADIAN RESOURCES:

About Kids Health
http://www.aboutkidshealth.ca

Sick Kids
http://www.sickkids.ca/

References:

American Academy of Pediatrics website. Available at: http://www.aap.org .

American Medical Association website. Available at: http://www.ama-assn.org/ .

Conn's Current Therapy 2001 . 53rd ed. WB Saunders Company; 2000.

Cystic Fibrosis Foundation website. Available at: http://www.cff.org .

Kleigman RM, Jensen HB, Behrman RE, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, PA: Saunders Elsevier; 2007.



Last reviewed November 2007 by Kari L. Kassir, MD

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.


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