About Cystic Fibrosis

Chromosome 7 and the location of Cystic fibrosis related CFTR gene in q arm
Cystic fibrosis is a rare genetic disorder caused by a defect in the CFTR gene.

It causes malfunction of the chloride channel in our cells, producing thick and sticky mucus, rather than natural thin and slippery mucus. This can damage organs.

Map showing a prevalence of Cystic fibrosis differs depending on ethnicity


More than 70,000 people are living with cystic fibrosis. The prevalence of cystic fibrosis differs, depending on ethnicity.

  • 1 in 2,500 to 3,500 for Caucasians
  • 1 in 4,000 to 10,000 for Hispanics
  • 1 in 17,000 for African Americans
  • 1 in 31,000 for Asians


The majority of symptom onset and diagnosis occur before the age of two.


Six symptoms of cystic fibrosis: skin that tastes salty, frequent lung infections, wheezing or trouble in breathing, trouble with bowel movements or frequent greasy stools, infertility in male, digestive problems

Inheritance Pattern

A family tree showing the autosomal recessive inheritance pattern of Cystic fibrosis
Cystic fibrosis is inherited in an autosomal recessive pattern. The number of people carrying mutations within CFTR genes also differ, depending on ethnicity.

  • 1 in 29 for Caucasians
  • 1 in 46 for Hispanics
  • 1 in 65 for African Americans
  • 1 in 90 for Asians


Sweat Chloride Testing

The standard test for diagnosing cystic fibrosis is a sweat chloride test. If a person has an abnormally high level of chloride, they may be diagnosed.

Newborn Screening

Early diagnosis is important. The United States screens newborns for cystic fibrosis, where diagnosis can be made immediately after checking levels of a chemical in the blood called immunoreactive trypsinogen (IRT).

Genetic test

A genetic test to detect the mutated CFTR gene is also widely conducted. Such a test is used to confirm the diagnosis made with the sweat chloride or screening test.


  • CFTR modulators are used to target CFTR protein and help its function
  • Kalydeco® produced by Vertex
  • Orkambi® produced by Vertex
  • Trikafta® produced by Vertex
  • Also, antibiotics which are used to prevent lung infections
Airway clearance techniques
  • Techniques which help loosen thick mucus within the lungs may be used. Oscillating devices such as a chest clapper or inflatable vest may also assist with this.


  1. ic-living-with-black
  2. Be aware of nutritional intake

    Eat high-calorie foods when appropriate, so that you can avoid malnutrition due to a lack of digestive enzymes. Drink a lot of fluids to help thin the mucus in your lungs.

Exercise Regularly

Exercises like walking, cycling, and swimming can help loosen the mucus inside the airway. Cardiovascular fitness is also recommended, to keep your heart (and body) in good shape.

Avoid Respiratory Risk Factors

Keep your hands clean. Keep away any risk factors for your lungs, including smoke, pollen, and mold. It may cause your symptoms to worsen.

Get Vaccinated Regularly

Getting the annual flu vaccine, or other vaccines your doctor recommends, are beneficial. Cystic fibrosis is not known to affect the immune system, but there is a chance to develop complications from it.


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