What is Cystic Fibrosis?

Cystic fibrosis, also known as CF or sixty-five (65) roses, is an inherited genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, causing the CFTR protein to malfunction.

When the protein is not working correctly, it’s unable to help move chloride to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.

Although cystic fibrosis requires daily care and treatments, people with cystic fibrosis are usually able to attend school and work. Improvements in screening and treatment options have given people with cystic fibrosis the ability to live into their mid- to late 30s, on average, and some are living into their 40s and 50s.

What Causes Cystic Fibrosis?

Cystic Fibrosis is a genetically inherited condition. For someone to have CF, they need to inherit a mutated gene from both of their parents. For couples who want to have children, genetic testing is also important as more than 10 million Americans are carriers of a CF gene. For every pregnancy, there is a one-in-four chance that the child will have CF when both parents are carriers.

People with only one copy of the mutated gene are called carriers. They do not have the condition or any of its symptoms. To have the disease, both parents must be carriers of the mutated gene.

If two carriers have a child, there is a:

  • 25% chance the child will have CF
  • 50% chance the child will be a carrier but will not have CF
  • 25% chance the child will not be a carrier and will not have CF

Signs & Symptoms of Cystic Fibrosis

Signs and symptoms of cystic fibrosis vary depending on the severity of the disease. Most of the symptoms of cystic fibrosis affect the respiratory system and digestive system. The thick and sticky mucus associated with cystic fibrosis clogs the air passages that carry air in and out of your lungs as well as block tubes that carry digestive enzymes from the pancreas to the small intestine. Without these digestive enzymes, the intestines are not able to fully absorb nutrients from food.

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salty-tasting skin
persistant cough
recurring lung infections
wheezing, shortness of breath
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poor weight gain or growth
greasy, bulky stools
nasal polys

Diagnosing Cystic Fibrosis

All newborns in the U.S. are screened for Cystic Fibrosis by testing a small blood sample. This can indicate that a baby might have a health condition and require further investigation. Seventy-five percent of people with CF are diagnosed by the age of 2 years. There are over 1,700 known mutations of the CF gene. As a result, most genetic tests for the condition only screen for the most common mutations. Additional diagnostics include:

Newborn Screening

The newborn screen shows infants who have a high level of an enzyme called immunoreactive trypsin in their blood. This occurs when there is injury to the pancreas. The test is repeated if it is abnormal. Some states also combine this with testing for the most common gene mutation called deltaF508

Sweat Testing

People with CF have high levels of chloride in their sweat because a lack of CFTR prevents the salt on the skin from being reabsorbed back into the sweat glands. Sweat is collect in a special device that is attached to the arm, and then tested in a lab. High amounts of salt will confirm CF.

Sweat Testing

If someone has a history of CF in their family, they may choose to get carrier test. A simple mouthwash or blood test can determine if someone is a carrier of the faulty gene that causes cystic fibrosis. Carrier testing is often done for people who are thinking of starting a family and have a relative with cystic fibrosis.