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2 pages/≈550 words
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Biological & Biomedical Sciences
Case Study
English (U.S.)
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Health Information Visitors Handout, What Is Cystic Fibrosis? (Case Study Sample)


Cystic fibrosis is a genetic disease with multiple etiologies. Typically, patients with cystic fibrosis have a thick buildup of mucus in their lungs, which can clog their airways and lead to persistent lung infections, and eventually respiratory failure. Treatments can vary greatly from person to person depending on disease etiology, but many patients rely on drugs that a ect the function of the cystic brosis transmembrane conductance regulator (CFTR). The CFTR protein is defective in patients with cystic fibrosis, and proper treatment can increase CFTR function and prevent symptoms associated with cystic fibrosis.
Why are CFTR drugs prescribed to treat some patients with cystic fibrosis while other patients are treated only with airway clearance techniques?
We need to answer the questions from patients with cystic fibrosis in a format that is easy to digest and understand. Many patients do not understand why they are prescribed different drugs than other patients with cystic fibrosis.
Ex. Handout, pamphlet, youtube video, script for healthcare provider, etc.
Here are the most common patient questions:
1. Why they have cystic fibrosis?
2. What is cystic fibrosis?
a. What is the cause?
b. What proteins are mutated?
3. Potential symptoms associated with their disease?
4. Treatment options.
a. Explain how the drugs work (mechanism of action)
b. Who is prescribed CFTR drugs and why?


Why Are CFTR Drugs Prescribed To Treat Some Patients With Cystic Fibrosis While Other Patients Are Treated Only With Airway Clearance Techniques?
What is Cystic Fibrosis?
According to Genetic Home Reference (2018), cystic fibrosis is a hereditary disease that results in persistent lung infections and hinders one's ability to breathe over time. Cystic fibrosis (CF) normally affects the respiratory, reproductive and digestive systems. CF can be passed on from parents to children when both of the parents have the defensive gene for cystic fibrosis but do not have the disease. When such parents have children, there is a 25% chance that one of their children will have cystic fibrosis, 25% chance of been unaffected and 50% chance of carrying the CF gene (Kanopy, 2014). However, the lifespan of patients suffering from cystic fibrosis is between 20-30 years, although some people live beyond this age due to drainage procedures and the introduction of medications. This pamphlet concentrates on the causes of CF, its potential symptoms, and treatment options.
What Causes Cystic Fibrosis?
* Cystic fibrosis is caused by a defensive gene known as delta F5O8 which contains an abnormality known as a mutation.
* This defensive gene manipulates a body's protein referred to Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). CFTR is developed in cells in respiratory passages and also in the pancreas, small intestine and sweat glands (Kanopy, 2014).
* When CFTR is deployed it causes the CF symptoms. However, CFTR moves to cell's surface and controls the salt (sodium) flow in and out of these cells. The CFTR then prevents the salts from leaving the cell's surface and following this, salts get confined in the body cells.
* The body strains to recompense the trapped salts by producing more body fluids like sweat, water, and mucus. Overproduction of these fluids makes them build up in the body, therefore, resulting in cystic fibrosis symptoms (Kanopy, 2014).
* Many of the people who suffer from cystic fibrosis are at a high risk of developing lung infections since thick and sticky mucus accumulates in the lungs, which causes germs to build up. Lung infections have been suggested to be a serious chronic disease for people living with CF.
Symptoms of Cystic Fibrosis
* The young children are commonly diagnosed with cystic fibrosis but in many cases, CF symptoms do not appear until adulthood. The symptoms of this disease vary, regarding the severity of the disease. However, the most noticeable signs of CF include;
* Salty-Tasting Skin: Cystic fibrosis is caused by F5O8 gene that controls salts flow in and out of body cells. People liv

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