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Cystic Fibrosis

by Justina
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Parents pass down Cystic Fibrosis, often abbreviated as CF, to their children as it is a genetic condition. At its core, CF alters how the body produces mucus, a vital substance for organ and system function. Ordinarily, mucus should be thin and slippery, but in CF, it thickens, becoming sticky like glue. This thickened mucus clogs tubes and ducts throughout the body.

Over time, the accumulation of this thick mucus in the airways presents breathing challenges, making it difficult to inhale and exhale. Additionally, the mucus traps germs, leading to frequent infections. Furthermore, it can cause significant lung damage, including the formation of cysts (fluid-filled sacs) and fibrosis (scar tissue), hence the name cystic fibrosis.

In the United States, more than 30,000 individuals live with cystic fibrosis, with approximately 1,000 new cases diagnosed each year.

Symptoms of cystic fibrosis

Symptoms of cystic fibrosis vary but may include difficulties with bowel movements, wheezing, frequent lung infections, infertility (especially in men), poor growth or weight gain, and salty-tasting skin.

The root cause of cystic fibrosis lies in a mutation of a gene called CFTR (cystic fibrosis transmembrane conductance regulator). This gene regulates the movement of salt and fluids in and out of cells. When the CFTR gene malfunctions, sticky mucus accumulates within the body.

To develop CF, one must inherit the mutated CFTR gene from both parents. However, if an individual inherits only one copy, they won’t exhibit any symptoms but will carry the disease, potentially passing it on to their offspring. It’s worth noting that about 10 million Americans are carriers of the CF gene.

Diagnosis of cystic fibrosis

Early diagnosis is crucial for effective management and improved long-term health outcomes. Newborns in every U.S. state undergo testing for cystic fibrosis using one or more of the following tests: a blood test measuring immunoreactive trypsinogen levels, a DNA test detecting mutations in the CFTR gene, and a sweat test assessing salt levels. However, some individuals may not be diagnosed until adulthood, at which point DNA or sweat tests may be administered if symptoms arise.

Treatments and therapies

Cystic fibrosis (CF) may not have a cure yet, but there are various treatments and therapies available to help alleviate its symptoms.

Medications: Doctors often prescribe medications to address specific aspects of CF:

  • Antibiotics: These are used to prevent or treat lung infections, promoting better lung function. They come in various forms like pills, inhalers, or shots.
  • Anti-inflammatory medicines: Such as ibuprofen and corticosteroids, they help reduce inflammation in the airways.
  • Bronchodilators: Administered through inhalers, bronchodilators relax and widen the airways for improved breathing.
  • Mucus thinners: These help to loosen thick mucus in the airways, making it easier to clear.
  • CFTR modulators: These medications assist the CFTR protein in functioning properly, enhancing lung function and aiding in weight gain. A notable example is Trikafta, a combination therapy of three CFTR modulators.

Airway clearance techniques: Several methods can help clear mucus from the airways, including:

  • Chest therapy or percussion: This involves rhythmic tapping or clapping on the chest or back to dislodge mucus from the lungs.
  • Oscillating devices: These devices create vibrations in the airways, loosening mucus and facilitating its removal. Some individuals opt for oscillating chest vests for this purpose.

Physical therapy for CF: Specific breathing exercises are designed to assist in clearing mucus and improving lung function:

  • Autogenic drainage: By exhaling forcefully, or “huffing,” mucus is moved from smaller to central airways, aiding in its expulsion.
  • Active cycle of breathing: This technique involves controlled breathing patterns to relax upper chest muscles and clear mucus effectively.

Complications of CF: Apart from affecting the lungs, CF can also impact other organs:

  • Pancreas: Thickened mucus obstructs pancreatic ducts, hindering the release of digestive enzymes and leading to malabsorption of nutrients.
  • Liver: Blocked bile ducts can cause liver inflammation and cirrhosis.
  • Intestines: Challenges in breaking down high-acid foods can lead to intestinal lining damage.
  • Bladder: Chronic coughing weakens bladder muscles, resulting in stress incontinence.
  • Kidneys: Some individuals may develop kidney stones due to CF.
  • Reproductive organs: Thickened mucus can affect fertility in both men and women.

Although CF requires daily management, advancements in treatment have significantly improved life expectancy for individuals with the condition. With proper care, people living with CF today can expect to lead longer and healthier lives.

[Sources: National Heart, Lung, and Blood Institute; NYU Langone Health; Lab Tests Online; Stanford Children’s Health; Genetic and Rare Diseases Information Center; Nemours Foundation; Cystic Fibrosis Foundation; American Lung Foundation; National Human Genome Research Institute; Mayo Clinic; YourGenome.org; The Childhood Liver Disease Research Network; Johns Hopkins Cystic Fibrosis Center.]

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