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Cystic fibrosis

(SIS-tik • fie-BROH-suhs)

General Condition Information

Other Names

There are no other recognized names for this condition.

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Condition Type

Birth Prevalence

  • It is estimated that at least a thousand babies are born with this condition each year in the United States.
  • It is less common in African American and Asian American babies.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

Increased immunoreactive trypsinogen (IRT) with or without at least one CF-causing change in the CFTR gene

What is Cystic fibrosis

Cystic fibrosis is an inherited (genetic) condition that causes thick and sticky mucus to build up in the body. The thick mucus can lead to fluid-filled sacs (cysts) and scar tissue (fibrosis) in organs.

Cystic fibrosis results when a protein that controls how salt flows in and out of cells does not work properly. When salt doesn’t go where it needs to, levels of water in certain parts of the body are too high in some places and too low in others. When mucus does not have enough water, it turns from thin and slippery to thick and sticky.

This thick mucus causes problems with the respiratory system, the digestive system, the reproductive system, and other parts of the body. 

Thick mucus in the lungs can block the airways, making it difficult to breathe, and leading to lung infections. When the immune system responds to infections in people with cystic fibrosis, waste products from the germ-killing cells get stuck in the mucus. This waste damages the lungs.

Thickened mucus can affect digestion and make it hard to get nutrients from food. Lack of nutrients can prevent normal growth and development.

If not treated, the combination of the salt imbalance and thick mucus leads to the signs and symptoms of the condition.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition. 

Treatments may include the following:

  • Airway clearance therapy (ACT)
  • Dietary treatments
  • Medications to:
    • Fight infection (antibiotics)
    • Reduce swelling (anti-inflammatories)
    • Thin mucus (mucus thinners)
    • Widen the airways (bronchodilators)
  • Personalized treatments that target specific CFTR gene changes

Children who receive early and ongoing treatment for cystic fibrosis can have healthy growth and development. Treatment is very important for managing cystic fibrosis symptoms and delaying damage.

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