General Health Tips & News


Cystic Fibrosis


By S.I. (staff writer) , published on December 24, 2021



Medicine Telehealth Health respiration lungs


What is Cystic Fibrosis?

Cystic fibrosis is an inherited disorder characterized by the production of thicker mucus, damaging many organs of the body and affecting mainly the digestive and respiratory systems [1]. It mainly damages the cells that produce digestive juices and sweat. It is an autosomal recessive genetic disorder that affects men more than women but the prognosis is better in men comparatively.

 

It causes persistent infection of the lungs resulting in chronic respiratory symptoms. It also involves pancreatic insufficiency. CF is mainly caused by the mutation in the Cystic Fibrosis gene. The gene encodes a protein CFTR (cystic fibrosis transmembrane conductance regulator) involved in the maintenance and regulation of the balance of salt and water in the body.

 

 

 

What are the Signs and Symptoms of Cystic Fibrosis?

 

The signs and symptoms of cystic fibrosis vary from patient to patient depending upon the severity and stage of the disease. Following are some common signs and symptoms of cystic fibrosis [2]:

 

  • The salty taste of skin
  • Frequent coughing with or without mucus (dark brown)
  • Fatigue
  • Lung infections like bronchitis or bronchiectasis
  • Bouts of pneumonia
  • Pneumothorax
  • Wheezing (whistling sound while breathing)
  • Stridor (high-pitched sound while breathing)
  • Rales (bubbling sound while breathing)
  • Difficulty in breathing
  • Shortness of breath
  • Respiratory failure
  • Loss of appetite
  • Nausea
  • Hemoptysis
  • Weight loss
  • Malnutrition
  • Clubbing of fingers
  • Gastroesophageal reflux disease (GERD)
  • Infertility in males
  • Delayed growth and puberty
  • Pancreatitis
  • Jaundice
  • Cholelithiasis
  • Biliary cirrhosis
  • Diabetes
  • Deficiency of vitamin A, D, E, and K
  • Pancreatic exocrine insufficiency

 

 

What are the Causes of Cystic Fibrosis (CF)?

 

Cystic fibrosis is caused by genetic mutation of the CFTR protein which controls the movement of water and ions in the body. It specifically affects chloride channels [3].  The mutated gene results in the production of abnormally thick and sticky mucus which blocks different passages in the body and also increases the amount of salt in sweat.

 

 

 

What are the Treatment Options for Cystic Fibrosis?

 

Cystic fibrosis is a genetic disorder that cannot be cured. However, various methods and treatments are available to reduce the severity of symptoms, risks of complications and to improve the quality of life. These options are described below [4]:

 

Medical Treatment for Cystic Fibrosis:

 

  • Antibiotics
  • Mucus thinning medications
  • Non-steroidal anti-inflammatory drugs (NSAIDs)
  • Bronchodilators
  • Cystic fibrosis transmembrane conductance regulator modulators target mutated CFTR gene and improve its function. These drugs are available in the following combinations:

 

  1. Trikafta (elexacaftor, ivacaftor, tezacaftor)
  2. Symdeko (tezacaftor, ivacaftor)
  3. Orkambi (ivacaftor, lumacaftor)
  4. Kalydeco (ivacaftor)
  5. Oral pancreatic enzymes
  6. Acid-reducing medications
  7. Anti-diabetic drugs
  8. Steroids
  9. Laxatives
  10. Vitamins (A, D, E, and K)

 

 

 

Therapies for Cystic Fibrosis [5]:

 

  • Oxygen therapy
  • Airway clearance (chest physical therapy) is done to lessen the chances of infections and to improve the patency of the airways. Airway clearance techniques are used to remove excess mucus from the lungs. Some of these techniques are:

 

  1. Clap with cupped hands on the front and back of the chest
  2. Use of mechanical devices to lose lung mucus
  3. Vigorous exercise
  4. Postural drainage
  5. ACBT (active cycle of breathing techniques) is also used to remove excess mucus from the lungs.

 

 

 

References:

  1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596161/#:~:text=Results,reproductive%20organs%E2%80%94to%20varying%20degrees.
  2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2137053/
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596161/
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4907071/
  5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7706361/




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