Cystic Fibrosis

Definition  

Cystic fibrosis (CF) is an inherited disease. It causes a defect in certain cells of the lung and digestive system. The defect makes the cells produce a thick, sticky mucus. This mucus can cause:

• Blockages in the lungs and airways
• Problems digesting and absorbing nutrients

Cystic Fibrosis  

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CF is a serious life-long condition but the severity of illness can vary greatly. The average life expectancy for someone with CF is about 35 years. Although, some with mild forms of CF can live to age 60 or beyond.

Causes  

CF is a genetic disorder. The child will need to inherit the defective genes from each parent in order to develop CF. Parents that have the gene but do not have CF are called carriers.

Risk Factors  

Factors that increase your chance of CF include:

• Parents who are known carriers of the CF gene
• Siblings with CF
• Parents with CF (mostly mother since men with CF are often sterile)

Symptoms  

The abnormally thick mucus of CF blocks certain organs. This causes many of the symptoms of CF.

Symptoms in infants may include:

• Difficulty passing the first stool (meconium)
• Meconium ileus (intestinal obstruction), sometimes requires surgery
• Salty sweat

Mucus that causes blockages in the lungs may lead to:

• Coughing and wheezing
• Shortness of breath
• Difficulty with exercise
• Repeated pneumonia
• Severe, chronic sinusitis
• Abnormally shaped clubbed finger tips
• Barrel chest
• Nasal polyps

Mucus can also block the pancreas. This can block enzymes used to help you digest food. This can lead to:

• Trouble gaining weight
• Poor growth
• Failure to thrive
• Malnutrition
• Dehydration
• Bulky, bad-smelling, floating stools, due to poor digestion of fats
• Diarrhea
• Pancreatitis
• Insulin-dependent diabetes
• Gallstones
• Liver cirrhosis

Other symptoms may include:

• Salty sweat
• Mildly decreased fertility in females
• Prolapsed rectum
• Prevention of sperm production in males

Overall, girls tend to be affected more severely than boys.

Diagnosis  

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.

CF is often diagnosed by symptoms, family history of CF or a positive screening test in newborns. The diagnosis may be confirmed with genetic testing. Other lab tests that may be used to confirm CF include:

• Sweat chloride testing (still the standard for making a diagnosis of CF)
• Transepithelial difference measurement

Your doctor may need to check your lungs. This may be done to look for symptoms or determine treatment. Tests may include:

• Chest and/or sinus x-rays
• Lung function tests
• Sputum cultures

Tests may also be needed to check the pancreas. These tests may be done to assess symptoms or determine treatment.

Treatment  

There is no cure for CF. Treatment is aimed at:

• Improving the amount of nutrition your body receives
• Preventing and treating lung infections
• Keeping the airways and lungs as clear as possible

Treatment for CF includes: