Cystic Fibrosis

Congenital Disorders, Oral and Gastrointestinal

Cystic fibrosis (CF) is a genetic disease that causes excess mucus production in the lungs and digestive system. This genetic defect makes the mucus thicker than normal, causing it to clog airways and drainage ducts in the body and making it difficult to breathe. It mostly affects the lungs and pancreas, but other areas of the body can be affected. Also, bacteria can be trapped, resulting in frequent infections, which damage the lung tissue and cause respiratory failure. In the pancreas, thick mucus blocks the ability to secrete enzymes that aid digestion and nutrient absorption. This can lead to delayed growth in children due to malnourishment. The known cause of CF is a genetic defect in the CFTR gene. This gene is responsible for the CFTR protein which helps your body move salt and water through the cells. When this gene is defective, the salt is moved to the skin and less is deposited inside the body. Since salt attracts water, not enough gets into the secretions and this causes them to become very thick and sticky. Cystic fibrosis affects over 30,000 people in the U.S and over 70,000 all over the world. It is a progressive lung and digestive disease that can be life-threatening. The majority of cystic fibrosis cases only survive into their teens up to their 20s, but a small number of people with CF may live up to mid-life.

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Symptoms

The most obvious indicator of CF is salty skin. This is because the disease causes the body to deposit more salt in the sweat than normal. The other common symptoms include:

Chronic cough and wheezing.CF causes the mucus to become very thick and sticky. It clogs up the airways and is very hard to clear.

Stuffy nose. Both thickened mucus and polyps in the sinuses and nose can cause a chronically stuffy nose and increased cases of sinus infections in CF.

Frequent respiratory infections. Thick mucus can trap bacteria in the respiratory tract leading to more upper and lower respiratory tract infections in CF sufferers.

Shortness of breath. This is due to the airways getting clogged with mucus and reducing the airflow to and from the lungs.

Reduced exercise tolerance. Not only does reduced lung function affect the ability to exercise, but also increased inflammation and muscle weakness. While this is a symptom, exercise is still important to CF patients.

Fatty, foul-smelling stools. This is due to a lack of digestive enzymes normally secreted by the pancreas.

Slow weight gain and slow growth. Not enough digestive enzymes, plus mucus in the intestines reduces nutrient absorption.

Constipation and intestinal blockage. These symptoms have a few different factors. First, the thick intestinal mucus slows down the movement of stool through the intestines. Next, pancreatic supplements are strongly believed to be constipating. Lastly, people with CF have high levels of inflammation in the intestines.

Risk Factors

There are some common risk factors for CF including:

Ethnicity. CF is found more often in Caucasians from Northern Europe, Native Americans, and Hispanics. It is not seen as often in African American and Asian populations.

Family history and genetics. The defective gene for CF runs in families. CF is inherited when both parents have one copy of the defective gene. If the child inherits only one they are considered a carrier and can pass the gene on to their children. If the child inherits both copies, one from each parent they will develop CF.

Diagnosis

The good news is that hospitals check babies at birth for CF. The hospital will check for trypsinogen, a chemical that comes from the pancreas. In CF, the levels are high. This test can be abnormally elevated, so other tests will be run to confirm the diagnosis including:

Salt testing. The skin is checked for abnormal levels of salt in the sweat. This test is usually run when the baby is around onemonth of age to be accurate since newborns do not sweat much.

Genetic tests. The parents and baby can be swabbed on the inside of the mouth or blood tests to look for the defective CFTR gene.

Regular testing for CF patients
After the diagnosis of CF is made, you will need to have regular testing to see how your body is doing. The following tests are performed regularly:

  • Tests for infection (blood and sputum)
  • Blood testing for pancreas function
  • Chest x-ray
  • Lung function test – (Spirometry that tests how much air you can move in and out of the lungs, Total lung volume, and residual volume)
  • Blood tests for liver function

Diabetic testing after the age of 10. This test is necessary due to the pancreas not making enough insulin. Screening is important because CF patients often do not have any of the common symptoms of diabetes.

Treatments

The treatment for CF involves keeping the airways clear, preventing and treating infection, and improving nutrient absorption. These treatments include:

Keeping airways clear. Known as “airway clearance techniques” or ACT. This helps to keep the airways clear of thick mucus. Postural drainage and percussion techniques are taught to patients and their caregivers. It involves cupping the hand and “clapping” on the back. They can also prescribe a mechanical vest that vibrates the mucus to help loosen it.

Inhalers. Bronchodilator medications that are inhaled can help open up the airways for easier breathing. They are usually given via metered-dose inhaler or a nebulizer machine. There are also inhaled medications that can help thin out thick mucus.

Antibiotic therapy. These may be used to treat active infections via oral or intravenous. They can also be given via nebulizer treatment. Some patients may require a special intravenous line for antibiotics called a PICC line. This will help preserve delicate veins when multiple treatments are needed.

Digestive enzymes. Pancreatic enzymes may need to be given to help aid in the digestion and absorption of food.

Dietary changes. A dietitian may need to design a special diet to make sure children get enough calories and nutrition for proper growth. This may even require a feeding tube.

Alternative Treatments and Home Remedies

Researchers have found that CF patients benefit from increased supplementation of antioxidants. Both food sources and supplements have proven to be helpful to the quality of health. Lungs that have CF do not contain enough antioxidants so supplementation may help decrease the inflammation and number of infections. There are ongoing studies on the antioxidant, glutathione.

Make sure you check with your doctor before using any alternative medicine remedy for CF.

Lifestyle Changes

CF can be easily managed with healthy lifestyle changes including:

  • A healthy nutritious diet
  • Stay away from cigarette smoke
  • Prevent infection with good hand washing
  • Get regular exercise
  • Drink plenty of fluids

References

Centers for Disease Control and Prevention. (2020, May 18). Cystic fibrosis. Retrieved from Centers for Disease Control and Prevention:https://www.cdc.gov/genomics/disease/cystic_fibrosis.htm

Cystic Fibrosis Foundation Writing Staff. (2020). About cystic fibrosis. Retrieved from Cystic Fibrosis Foundation:https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/

Harvard Stem Cell Institute. (2012, April 05). Big advance against cystic fibrosis. Retrieved from Harvard Stem Cell Institute: Harvard University: https://hsci.harvard.edu/news/big-advance-against-cystic-fibrosis

National Heart, Lung, and Blood Institute. (2020, January 22). Cystic fibrosis. Retrieved from National Heart, Lung, and Blood Institute: NIH: https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis

Ratjen, F. A. (2009, May). Cystic fibrosis: Pathogenesis and future treatment strategies. Respiratory Care, 54(5), 594-605. Retrieved from:http://rc.rcjournal.com/content/respcare/54/5/595.full.pdf

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