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After 22 years as an RN, I now write about medical issues and new medical advances. Diet, exercise, treatment, and lifestyle are important.

Cystic fibrosis has an autosomal recessive pattern of inheritance.

Cystic fibrosis has an autosomal recessive pattern of inheritance.

Cystic Fibrosis Facts

Cystic fibrosis (CF) is a genetic disease that is progressive causing long-lasting lung infections. In addition, over time it limits the ability to breathe. This disease affects every race and ethnic group. An estimated 70,000 people have this disease worldwide, and 30,000 are affected in the United States.

The cystic fibrosis transmembrane conductance gene (CFTR) is the cause of the CFTR gene becoming dysfunctional. When the CFTR gene becomes dysfunctional it is unable to move the chloride to the cell surface. Chloride is a component of salt, and when it is not working normally and unable to help move salt to the cell surface it cannot attract water to that cell surface, and this causes the mucus to become more sticky and thick.

The mucus of various organs then becomes thick in the pancreas, and this prevents the release of digestive enzymes that aid the body in absorbing food and key nutrients to be absorbed. Ultimately, this thick mucus blocks the bile duct causing liver disease, malnutrition, and poor growth. Men in particular cannot have children.

Cystic Fibrosis Diagnosis

Newborn babies in the U.S. are screened for this disorder. Improved medical treatments and care now help more than half of people afflicted with CF. People age 18 or over can expect to live a full, normal life into their 40s, 50s, and beyond.

Early diagnosis is important in most diseases as treatment can begin immediately. one in 25 people of Northern European ancestry carry CF. Two or more carriers of this disease give parents a 25% chance of producing a child with this disease. About 70,000 adults and children have CF worldwide.

CF tests can identify the most common mutations. According to the Cystic Fibrosis Foundation "In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional."

Babies may be diagnosed within one month of their birth, even before they have symptoms. This is true in the U.S., but not in all countries.

Health problems associated with cystic fibrosis.

Health problems associated with cystic fibrosis.

Symptoms of Cystic Fibrosis

As the sticky mucus with CF clogs the tubes that carry air into the lungs infections are a serious problem. The symptoms may include:

  • Persistent cough due to the thick mucus
  • Wheezing
  • Multiple, repeated infections
  • Recurrent sinusitis, inflamed nasal passages

This thick mucus may also block the tubes that carry digestive enzymes from the pancreas into the small intestines, therefore, nutrients are not well absorbed from the food you eat. The symptoms include:

  • Poor weight gain and growth
  • Foul-smelling, greasy stools
  • Intestinal blockages, especially in newborn babies
  • Chronic or severe constipation, which may cause rectal prolapse

Cystic FibrosisTreatments

There is no cure for CF, but life expectancy has improved over the years. This disease requires care daily. Eating well is important to prevent malnutrition, and a dietician may be helpful. It is also important to get all the routine vaccinations, including the flu vaccine.

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These patients use a variety of different medications to prevent lung problems. Some of the medications include:

  • Antibiotics for lung infections
  • Kaftrio is a combination of three drugs (ivacaftor, tezacaftor, and lumacaftor), which may be prescribed for children over age 6 or 12 in some countries, but this medication is very expensive.
  • Medication that thins the mucus in the lungs making it easier to cough up secretions
  • Bronchodilators to expand the airway
  • Steroids

A physiotherapist can also help to help keep the lungs clear, typically using ACBT. ACBT helps clear secretions from the chest by using a set of breathing exercises. The exercises are repeated in a cycle until the lungs clear.

CF Effected Airway

CF Effected Airway

Possible Complications

There are numerous possible complications of the respiratory system, including:

  1. Damaged airways (bronchiectasis) - a chronic condition causing abnormal widening and scarring of the airway, which makes it more difficult to move air in and out of the lungs.
  2. Chronic lung infections, as the mucus is an ideal breeding ground for bacteria and fungi.
  3. The lining of the nose is inflamed and swollen, so growth (nasal polyps) occurs.
  4. Coughing up blood (hemoptysis) due to airway damage
  5. Pneumothorax is where air leaks into the space separating the lungs from the chest wall, which may cause a partial or full lung collapse.
  6. Respiratory failure may occur over time.
  7. Acute exacerbations may cause a worsening of respiratory symptoms that require more treatment.

Digestive System Complications

  1. Nutritional deficiencies due to the difficulty of nutrients being blocked by the thick mucus.
  2. Diabetes may occur as the pancreas produces insulin.
  3. Liver disease may occur due to a blockage of the bile from your gallbladder and liver.
  4. Intestinal obstruction can occur at all ages in CF patients.

Other Complications

  1. Infertility is common in men and reduced fertility is common in women.
  2. The thinning of bones (osteoporosis) and increased joint pain and arthritis may occur.
  3. Electrolyte imbalances may happen due to dehydration as patients with this disease have saltier sweat due to a mineral imbalance, particularly with activity.
  4. Mental health problems may occur due to the stress of dealing with a chronic illness.

Cystic Fibrosis Foundations

The Cystic Fibrosis Foundation was formed in the U in the 1960s. They have a patient registry that tracks the care of all patients with this disease.

There is also the European Cystic Fibrosis Society (ECFS) that is an international community of scientific and clinical professionals committed to improving survival and quality of life for CF patients.

The Australian Cystic Fibrosis Research Trust (ACFRT) is another organization doing research. Many countries have no registry, and the patients are often undiagnosed.

References

This content is for informational purposes only and does not substitute for formal and individualized diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed medical professional. Do not stop or alter your current course of treatment. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.

© 2022 Pamela Oglesby

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