Cystic Fibrosis (CF)
Cystic fibrosis (CF) is an inherited disease. The defect occurs in epithelial (or lining) cells. These cells normally create a mucus. The mucus is a vital tool for many organs. CF causes the cells to produce a very thick and rubbery mucus. This most commonly causes:
- Obstructions and infections of the lungs and airways
- Malabsorption in the gastrointestinal system (stomach and intestines)
CF is an autosomal recessive disorder. This means the child inherits one defective gene from each parent. Usually the parents do not have the disease but carry the gene. These parents are called carriers.
Factors that increase your chance of CF include:
- Parents who are known carriers of the CF gene
- Siblings with CF
- Parents with CF
The abnormally thick mucus of CF blocks certain organs. This causes many of the symptoms of CF.
- Difficulty passing the first stool (meconium)
- Meconium ileus, or intestinal obstruction (sometimes requires surgery)
- Trouble gaining weight
- Poor growth pattern
- Failure to thrive
- 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]]>
- ]]>Insulin-dependent diabetes]]>
- ]]>Liver cirrhosis]]>
- Mildly decreased fertility in females
- No sperm production in males
CF is a serious life-long condition. It significantly reduces longevity. It also results in illness and poor health for most. Girls tend to be affected more severely than boys. The severity of illness can vary greatly. Some persons with mild forms of CF can live to age 60 or beyond.
The doctor will ask about symptoms and medical history. A physical exam will be done. 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
There is no cure for CF. Treatment is aimed at:
- Improving nutritional status
- Preventing and treating lung infections
- Keeping the airways and lungs as clear as possible
Treatment for CF includes:
- High-calorie diet planned by a registered dietician—If your child returns to his normal weight within two years of the diagnosis, this may lead to fewer coughing episodes and better lung function. *¹]]>
- Nutritional supplements, including fat-soluble vitamins
- Enzyme tablets with meals to improve digestion and absorption of nutrients
- Drinking lots of fluids, especially in hot weather or when ill
- Medication and injections
Medications to keep the airways clear, including:
- Theophylline (rarely used today)
- Steroid inhalers
- Nonsteroidal anti-inflammatory drugs (uncommonly used)
- Insulin shots if the pancreas stops producing insulin
- Inhaled and/or systemic antibiotics to treat respiratory infections
- Medications to keep the airways clear, including:
- Chest percussion and postural drainage or high-frequency chest wall oscillation (may help clear mucus from airways)
- Oxygen therapy (may be required as the disease progresses)
Researchers are exploring gene therapy. This may slow the progression of CF, or even cure it.
If you or your child is diagnosed with CF, follow your doctor's instructions .
American Academy of Pediatrics
American Lung Association
Cystic Fibrosis Foundation
American Academy of Pediatrics website. Available at: http://www.aap.org .
American Medical Association website. Available at: http://www.ama-assn.org/ .
Conn HF, Rakel. Conn’s Current Therapy. 54th ed. Philadelphia, PA: WB Saunders Company; 2002: 720-721.
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.
*¹4/16/2009 DynaMed's Systematic Literature Surveillance http://www.ebscohost.com/dynamed/what.php : Lai HJ, Shoff SM, Farrell PM; Wisconsin Cystic Fibrosis Neonatal Screening Group. Recovery of birth weight z score within 2 years of diagnosis is positively associated with pulmonary status at 6 years of age in children with cystic fibrosis. Pediatrics. 2009;123:714-722.
Last reviewed January 2009 by ]]>Kari 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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