• Genetic disease that leads to chronic lung infection and progressively limits a person's ability to breath

  • Inherited in an autosomal recessive manner

    • People with only one copy of the mutated gene are carriers

  • Caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that causes CFTR proteins to be dysfunctional

    • Dysfunctional CFTR proteins are unable to move chloride to the surface of cells

    • Without chloride to attract water to the cell surface, mucus in numerous organs (namely the lungs and pancreas) becomes thick and sticky

    • Airways become blocked by mucus

    • Pathogens become trapped within airways leading to infection, inflammation, nutrient malabsorption, respiratory failure, and more

  • There are over 1,700 different known mutations of the CFTR gene

• Affects about 70,000 people worldwide and about 30,000 people in the United States

• Symptoms are complex and vary widely; disease is progressive and often causes chronic lung damage

  • Symptoms are related to abnormalities of the exocrine glands (mucus, sweat, and saliva) 

    • Persistent coughing

    • Salty sweat and skin

    • Frequent lung infections

    • Shortness of breath

    • Clubbing in fingers and toes

    • Chronic sinus infections

    • Pancreatic insufficiency and obstruction

    • Fertility complications

    • More!

• All 50 states in the US have Newborn Screening for CF

  • Most patients are diagnosed before the age of 2

• No cure exists

  • Treatment depends on the disease progress and which organs are involved

    • Therapies may include airway clearance techniques such as chest percussion and mechanical vests, inhaled medications and antibiotics, pancreatic enzymes supplements, and nutritional and fitness plans

      • CFTR modulators may be used for people with specific CFTR mutations

  • New and improved treatments have drastically improved the outlook and quality of life for patients

    • Over 50% of CF patients are adults, as opposed to it historically being fatal before the patient reached elementary school age

 
Sources
Cystic Fibrosis Foundation

NORD​