10 Terms To Know About Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disorder passed from parent to child. When both parents have a mutated CF gene, any offspring has about a 25% chance of inheriting it. Although all newborns are now tested for CF, symptoms may not appear until later in life. While recent medical advents have greatly improved the life expectancy of those with this condition, it is still important to be informed about this potentially fatal disease.

  1. CFTR (cystic fibrosis trans-membrane conductance regulator) protein: A normal CF gene produces the CFTR protein, which lets the natural bodily fluids protect surfaces and get mucus out of the way. When the mutated form of the CF gene appear, CFTR protein either isn’t produced or isn’t effective. According to the Cystic Fibrosis Foundation, it is essentially the root cause of CF.
  2. Secretory glands: These are the glands most affected by CF. They any any gland that produces a bodily fluid. It could be digestive juices, sweat, but especially mucus. The body may produce too much sweat, causing excessively salty skin and potentially leading to serious dehydration. Instead of lubricating, the mucus becomes entirely too thick. It blocks off important airways and tubes, causing lung infections, gastrointestinal issues, and other serious problems.
  3. Immunoreactive trypsinogen (IRT): The pancreas produces this chemical, which is used to test for cystic fibrosis. When too-high levels are detected in newborns, it can be indicative of the disorder’s presence. However, strenuous labor can also cause high IRT levels, so at one month or older the baby can be given a sweat test, a specialized test that checks the levels of salt.
  4. Clubbing: The issues CF causes in the pancreas can make it difficult for essential nutrients to be absorbed. This leads to a lack of growth and weight gain or weight loss. Low bone density may be an issue, making bones easier to break and leading to osteoporosis. Additionally, clubbing may occur, in which the fingers and toes become wider on the ends.
  5. CFTR modulator: This breakthrough treatment for CF appeared in 2012. Rather than treating CF symptomatically, it deals with the actual cause itself. It induces the CFTR protein to work, and has increased the life expectancy of people with CF by decades.
  6. Nebulizer: CF patients generally use a nebulizer to administer their medication. Similar to the inhalers of asthmatics, nebulizers are usually battery operated and turn liquid medication into a mist, which can be inhaled. They generally contain a bronchodilator to improve lung function, along with an antibiotic to prevent or treat infection and bacteria build up in the excessive mucus that forms.
  7. Bronchodilators: This is a common medication used in nebulizers. It can alleviate some of the coughing, wheezing, and breathing difficulty associated with CF by expanding the bronchi, which are the main tubes that bring air into and out of the lungs.
  8. Airway clearance techniques (ACTs): One of the key treatments for CF is daily airway clearance technique treatments. There are several techniques, such as “percussion and postular draining” in which a caretaker cups their hand and claps it against the child’s chest to loosen and expel mucus. Different ACTs are more effective for different people—no one technique is necessarily better than another, but anything is better than nothing. It is important to find one that works for you and do it daily.
  9. High frequency chest compression: Another type of ACT involves the use of an air compressor attached to an inflatable vest. The combined items wrap the person with high frequency vibrations to loosen the mucus to it will come out. As children grow older and more independent, this becomes a nice option. Additionally, it is easy to use in combination with other medications, which saves time.
  10. Pancreatic enzyme supplement: Excessive mucus can build up in the tube the pancreas uses to send a specific enzyme to the small intestine. This enzyme breaks down food and helps with absorption of essential nutrients. When the mucus builds up, the enzyme doesn’t pass through. This supplement improves nutrient absorption, thus helping to prevent poor growth and weight loss.

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Posted on May 5, 2023