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
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)
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
If you have the defective genes, there is no way to prevent CF.
Adults can be tested to see if they carry the genes before having children. Prenatal testing can determine if a baby will have CF. The availability of this testing raises many important ethical questions.
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
: 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.
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IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the
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