Cystic Fibrosis Essay

CF multi-disciplinary team also undertakes clinical research of the condition, where new treatment and therapies are

They are also accompanied by many medicines and other treatments to help them with the comfort of cystic fibrosis.

Air the vital ingredient of life. Without air there will be no oxygen. Now imagine having lungs that will not fill correctly. People with cystic fibrosis (CF) live with this everyday of their life.

CF is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CTFR) gene, which encodes a chloride ion channel that regulates osmotic balance across the epithelium through the transport of sodium ions and water4. Mutations

Cystic Fibrosis is a disorder where the exocrine glands secrete abnormally thick mucus, leading to obstruction of the pancreas and chronic infections of the lungs, which usually cause death in childhood or early adulthood. Some mildly affected patients may survive longer. Doctors can diagnose the disease by testing the patients perspiration because people with Cystic Fibrosis have high amounts of salt in their perspiration. Those with respiratory infections are treated with antibiotics, with aerosols that relieve constriction of the airways and liquefy the thick mucus, and by physical therapy to help patients cough up the obstructing secretions. Patients with pancreatic insufficiency can take pancreatic enzymes with meals.

In infants symptoms include coughing, wheezing, excess mucus in the lungs, shortness of breath, extremely salty skin and decelerated growth. With infants it is very common for them to develop pneumonia infections because of all the bacteria that resides in the lungs. With treatment, most patients with cystic fibrosis live into their 20’s and 30’s, some individuals with milder cases can live longer. Death is most often due to end-stage lung disease.Thus far no cure for the disease has been found. Although, research on gene therapy is promising. Treatment is generally aimed at alleviating symptoms, preventing infections, and slowing the progress of the disorder. (Egan’s 10th Ed,

Cystic Fibrosis is a genetic disease that causes the body’s lungs to generate a different type of mucus than a non-infected body would. The contaminated lungs will produce mucus that is thick and adhesive which clogs the lungs and leads to an unpleasant and abhorrent lung infection. CF also interferes with the pancreas, disallowing the digestive enzymes from breaking down and absorbing food in the intestine. This can result in low nutrition, feeble growth, excessive sweat production, difficulties in breathing, and sometimes lung disease. When producing extra sweat and mucus, the body loses salt. If too much salt is lost, it can cause abnormal heart rhythms, disturbance of minerals in the blood, and perhaps, shock.

Cystic fibrosis is known to be one of the most common and deadly diseases in Caucasians, affecting 1 in 2500 children. This percentage results in 30,000 individuals within the United States to be diagnosed with CF. There are over 1900 mutations of this gene that cause a wide variety of severities within this disease. (McCance, Huether, Brashers, & Rote, 2010) Due to its complex mutation and unknown cause, only treating the symptoms of CF have been the main treatment protocol to this disease. Current treatments are cumbersome and expensive providing patients with life expectancy only into their twenties, but usually younger in most cases. There has been specific progress towards a cure involving gene therapy providing hope for a cure to

Like the world around us the medical field is always changing. It is always pushing forward, trying to understand mysteries of the human body that have boggled researchers for decades. What confuses scientists more, are the organisms or conditions that create these abnormalities that can send the human body into a downward spiral. Disease is something that has affected human civilization since the dawn of time. It can either be chronic or acute, but in either case it has the potential to bring havoc to the human body systems that can lead to devastating consequences. Generally there are two main types of diseases, ones caused by invading pathogens and those which are hereditary. One hereditary disease that can be particularly tragic is

people with Cystic Fibrosis. Most of these mutations change single protein amino acids in the CFTR

Imagine drowning, lungs filling with water that swallows the air and suffocates those caught in it. Now, imagine drowning in a hospital bed surrounded by doctors and family members who can only stand by and watch the inevitable. This is the fate of a person with Cystic Fibrosis. Cystic Fibrosis is a disease that forces a person to drown in mucus that fills their lungs while it wreaks havoc on the body. This chronic disease causes devastating health problems, has no cure, and forces patients to endure painful temporary treatments. Taking daily medications, maintaining a social life, and staying moderately healthy are a constant struggle for people with Cystic Fibrosis.

CF is an autosomal recessive disorder that is predominately found in European decent. It affects various systems in the human body, however, it is the respiratory system that contributes to the high mortality rate due to pulmonary decline. This is due to a mutation in the CFTR gene, depending on what mutational class it falls under can indicate the severity of their clinical outcomes. The lack or complete absence of functionality of the CFTR gene results in mucus accumulation in the airways, which consequently makes them more prone to infections that may hasten their lung deterioration and even endanger their lives. Even though there is no cure for CF a number therapeutic classes are implemented usually in concomitant with each other to delay progression of lung disease and provide symptomatic relief.

Kalydeco (ivacaftor or VX-770) is a quinolone carboxyamide small molecule drug used to treat cystic fibrosis in patients with a specific genotype (Deeks 2013). Cystic fibrosis is a genetic disorder that can affect various organs of the body and eventually leads to pulmonary disease. The genetic basis of this disease is that of mutations within the cystic fibrosis transmembrane conductance regulator (CFTR), which codes for a glycoprotein found on the apical surface of epithelial cells (Deeks 2013). CFTR protein functions as primarily as a chloride ion channel but is also able to transport sodium amongst other processes. Medical research has led us to believe that the primary phenotype of cystic fibrosis is a defective chloride ion channel that is caused by mutations in the CFTR gene (Deeks 2013). A dysfunctional chloride channel causes a reduction of airway surface liquid within the lungs, which damages the function of pseudostratified columnar epithelial cilia (Deeks 2013). Furthermore, this will result in the obstruction of mucus in the airway passages causing inflammation and infection. Ivacaftor is administered to patients with cystic fibrosis who have a G551D mutation in the CFTR gene (Deeks 2013). Ivacaftor was the first drug to treat an underlying cause of cystic fibrosis that was licensed in the USA and EU (Deeks 2013). Although greater than 1,500 CFTR mutations have been identified, the G551D mutation (Gly to Asp) is the third most common CFTR mutation (Jih 2012).

Cystic Fibrosis (CF) is an autosomal recessive gene that causes a wide range of symptoms because there are over 1,000 changes or mutations that can occur within the cystic fibrosis transmembrane receptor (CFTR) protein. The CFTR protein is generally a chloride ion chain “regulated by cyclic adenosine monophosphate and therefore can act as a regulator of other electrolyte channels”(Grossman, S., & Grossman, L. 2005, p. 46). Typically this protein allows chloride ions to exit mucus-producing cells allowing water to flow in and thin the mucus. However, if the CFTR protein has been mutated, such as in cystic fibrosis, chloride ions cannot exit. This causes the mucus to thicken, become sticky, and obstruct the various channels it passes through. This build up of mucus also prevents bacteria from being cleaned from cells thoroughly increasing the patients risk for infections (Grossman, S., & Grossman, L. 2005). However, the severity of CF depends on whether the patients have complete or partial loss of the CFTR gene. If the person has the classic form of CF abnormalities of CFTR will commonly affect “…the respiratory, gastrointestinal, endocrine and metabolic, and genitourinary systems”(Schram, C. 2012). However, if people have atypical forms of CF their genetic disorder may only affect one of the organ systems and may not be found until the patient develops symptoms in their late childhood, early adolescence, or adulthood

Purpose of the Study: Dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR)1 is responsible for cystic fibrosis (CF), an inherited multisystem disease characterized by progressive deterioration in lung function and pancreatic insufficiency. CFTR appears to act as a negative modulator of inflammation2, both under basal conditions and in the presence of inflammatory triggers such as lipopolysaccharide derived from Pseudomonas aeruginosa, the major cause of morbidity and mortality in CF3-5. Compounds that either potentiate CFTR function by increasing the time that chloride channels are open (VX-770) or enhance cellular processing and delivery of CFTR to the cell membrane (VX-809) may therefore augment the immune response as the quantity and function of CFTR increase.