Cystic Fibrosis

By Katie Skirtich

Cystic Fibrosis is a single gene mutation. It is a life-threatening, genetic disease that causes persistent lung infections and progressively limits the ability to breathe. The median predicted survival age for this disorder is close to 40 years old. A group of parents first started the Cystic Fibrosis Foundation (CFF) in 1955.


There are many symptoms that come along with having Cystic Fibrosis. People with this disorder have very salty-tasting skin. It also causes persistent coughing with phlegm and frequent lung infections, including pneumonia or bronchitis. Along with persistent coughing comes wheezing or shortness of breath. Poor growth or weight gain can occur, even with a good appetite. Cystic Fibrosis can also cause small, fleshy growths in the nose, called nasal polyps and chronic sinus infections. This order can also cause clubbing or enlargement of the fingertips and toes.
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This photo shows different types of things that could happen if you have Cystic Fibrosis.


Cystic Fibrosis is a recessive trait. It is the most common autosomal recessive inherited disease among caucasians. It occurs in other races,but less frequently. The gene mutation occurs in the 7th pair of chromosomes. Tobacco smoke, outdoor pollution,and pathogenic microorganisms can influence this disorder.
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Currently, there are only a couple tests that can determine whether or not somebody has Cystic Fibrosis. One way you can determine if someone has this disorder is a test called newborn screening. Newborn screening is a nationwide program to find babies born with certain health conditions. Another way to tell if you have this disorder is a test called the sweat test. A sweat test is measuring the concentration of salt in a person's sweat.
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This photo shows how the sweat test works when testing for Cystic Fibrosis.


There are multiple ways to prevent Cystic Fibrosis. One treatment is airway clearance which helps to loosen and get rid of the thick mucus that can hep build up in the lungs. You can also use inhaled medicines to open the airways or thin the mucus. Another medication is a pancreatic enzyme supplement. These are capsules to improve the absorption of vital nutrients. All three of these, airway clearance, inhaled medicines, and pancreatic enzyme supplement, are performed daily. Some other medications that are taken with Cystic Fibrosis are Dornase alfa (Pulmozyme), Hypertonic saline, Tobramycin for inhalation solution (such as TOBI), Aztreonam for inhalation solution (such as Cayston), Azithromycin (such as Zithromax), and Ivacaftor (Kalydeco). The research being done to help with these treatments and medications are Cystic Fibrosis includes Research Milestones, Clinical Research, Drug Development Pipeline, Research Centers, and CFF therapeutics.
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This picture shows a person who is using the airway clearance treatment to help clear out the build up in their lungs.


There currently aren't very many support groups or organizations for Cystic Fibrosis. Two organizations that are helping are the CF Foundation and FDA. Other people helping out with this disorder are mostly parents of children with Cystic FIbrosis.