INTRODUCTION Imagine going to the mechanic with squeaky brakes. After careful analysis of the car, the mechanic confidently concludes that the vehicle has a condition called “squeaky brake-itis” and prescribes a pair of earplugs to drown out the irritating noise. (Sabatier) Treating the symptoms instead of the cause of an issue would be totally unacceptable in mechanics, yet it happens in healthcare quite often. Cystic Fibrosis serves as an excellent example of treating symptoms because for a long time that was the only kind of treatment healthcare provided for these patients. To combat this issue, a new medicine called Ivacaftor was developed. This drug was designed to treat the underlying cause of Cystic Fibrosis by binding …show more content…
Like placing one’s hand on a heated burner, numbing the pain does not solve the issue. In 1980, the average life expectancy for a CF patient was less than 20 years. (New) Recently, scientists realized that in order to treat this complicated disease they would have to investigate a more complex cellular level. In 1989, the CFTR gene was discovered. (Discovery) This gene carries the instructions for the CFTR protein, which sits on the cell surface transporting chloride ions across the cell wall. When the CFTR gene is mutated, the CFTR protein is made incorrectly, and it is unable to exchange chloride ions. The high chlorine concentration inside of the cell is not optimal for normal cell function, so the lung cells naturally begin to pull in water from the mucus to dilute the thick chlorine concentration inside the cells. The result is thick, sticky mucus on the outside of the cells that mats down the cilia in lung airways. Clearing the throat and absorbing nutrients thus becomes extremely difficult and the symptoms of CF arise. (May) Shortly after the discovery of the CFTR gene, efforts were made to develop gene therapy for all CF patients. The intention was to insert healthy DNA so that the protein would be made correctly, but single cells have too short a life span to make a significant difference. (Learning) The next, more practical idea, was to invent a small molecule that would
Cystic Fibrosis, also known as CF, is one of the most common life-threatening genetic disorders found in people. Discovered in 1938 by Dr. Dorothy Hansine Andersen, Cystic Fibrosis severely affects two parts of the human body, including the respiratory system and the digestive system. Cystic Fibrosis causes the mucus glands to secrete very thick and sticky mucus. This mucus then clogs the tiny air passages and traps bacteria in the lungs. The thick mucus also stops the release of digestive enzymes in the pancreas from reaching the small intestine. According to Cystic Fibrosis Queensland (2015) more than one million Australians carry the Cystic Fibrosis Gene, with one in every 25 people, often not realising they are carrying the deadly gene.
Cystic Fibrosis is an inherited disease caused by mutations in a gene on 7th pair of chromosomes. Cystic Fibrosis is a chromosomal abnormality, meaning that one of the 23 pairs of chromosomes are not what they are supposed to be. A person without Cystic Fibrosis has a gene in chromosome 7, which produces a normal and substantial amount of protein called Cystic Fibrosis transmembrane regulator (CFTR), which in turn produces thin and watery mucus. A person with Cystic Fibrosis has a gene in chromosome 7, which produces either abnormal CFTR protein or no CFTR protein at all, which causes the body to produce thick and sticky mucus “A person with CF produces abnormal CFTR protein — or no CFTR protein at all, which causes the body to make thick,
Cystic Fibrosis is a life-threatening disorder of the lungs. This condition is hereditary and affects the cells that produce mucus and digestive juices. Instead of acting as a lubricant, these secretions become thick and slimy due to a defective gene and its protein product. The thick substances block the tubes, ducts, and passageways of the pancreas and lungs. Those suffering from cystic fibrosis have difficulty breathing and frequently develop lung infections. Many also develop diabetes due to natural enzymes being stopped from helping the body break down food and absorb vital nutrients. There are no known cures for cystic fibrosis; however, there are many treatments
The protein made by this quality is secured to the external layer of cells in the sweat organs, lungs, pancreas, and other influenced organs. The protein traverses this layer and goes about as a channel interfacing the inward part of the cell (cytoplasm) to the encompassing liquid. In the aviation route this channel is essentially in charge of controlling the development of chloride from inside to outside of the cell; however in the sweat conduits it encourages the development of chloride from the sweat into the cytoplasm. At the point when the CFTR protein does not work, chloride is caught inside the cells in the aviation route and outside in the skin. Since chloride is contrarily charged, emphatically charged particles likewise can't cross into the phone since they are influenced by the electrical fascination of the chloride particles. Sodium is the most well-known particle in the extracellular space and the blend of sodium and chloride makes the salt, which is lost in high sums in the sweat of people with CF. This lost salt structures the premise for the sweat test. How this breakdown of cells in cystic fibrosis causes the clinical indications of CF is not surely knew. One hypothesis proposes that the absence of chloride departure through the CFTR protein prompts the collection of more gooey, supplement rich bodily fluid in the lungs that permits microscopic organisms to escape the body's resistant
“If a baby was diagnosed with CF in the 1950s, parents were told to take them home and enjoy them because they would not make it to kindergarten,” Lora says. Today, babies diagnosed with the illness are growing into adults who live well into their 40s and
The CF gene is found in Chromosome 7. Mutations in the CFTR gene cause cystic fibrosis. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. The official name of this gene is “cystic fibrosis transmembrane conductance regulator “or
Cystic Fibrosis (CF) is a common genetic disorder that affects the exocrine gland in the lungs, liver, pancreas, and intestines causing progressive disability due to multisystem failure. It is also known as “mucoviscidosis because of the mucus that builds up and blocks the respiratory system and pancreas”(Bedwell). Cystic Fibrosis affects the cells that produce mucus, sweat, and digestive juices. It causes these fluids to become thick and sticky. With them becoming so thick and sticky they can plug up tubes, duct, and passageways. Unfortunately, there is no real cure for Cystic Fibrosis. “Although, the new developments in treatment and management, the 50 percent survival rate from the 1970’s has greatly improved, allowing patients to continue to live their lives longer than ever expected in the past. New developments in prevention of exacerbations, therapy drugs and methods to preserve
The Cystic Fibrosis Foundation provides support to help improve the lives of people who live with the disease. The foundation’s main goal is to find a cure to Cystic Fibrosis is an inherited disease caused by changed in a gene on chromosome seven. It is described as a buildup of mucus in the lungs and organs. The mucus in the lungs clogs the airways and bacteria grows, gets blocked in and eventually leads to infections that causes lung damage. After lung damage has occurred, respiratory failure then happens.
Cystic fibrosis (CF) is an inherited disease that affects the lungs and digestive system (National Heart, Blood, and Lung Institute, 2013). CF is caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene located on chromosome 7q31 (Beery & Workman, 2012, p. 192). More than 1600 different mutations in this gene have been identified, but 70% of cystic fibrosis patients have the amino acid ΔF508 defect. This mutation occurs when the CFTR protein is missing three nucleotides at position 508 which codes for the amino acid phenylalanine essential to nutrition (Scott, 2013, p. 493).
Improvements with treatments and screenings, those affected with cystic fibrosis now live well into their 20s and 30s, and some are living to their 40s and 50s.
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 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
The impacts of CF on a human can be very serious and life-shortening. A person with CF usually has their airways blocked by the mucus produced, therefore having trouble breathing. This can also result in the person running out of breath easily, and not being able to exercise for long periods of time. The person affected by CF needs to be checked regularly at Cystic Fibrosis Care Centers to maintain their CF. They should always take the medicine prescribed by their CF manager/doctor. A person affected by CF can’t do all the regular activities that people who aren’t affected by CF can do, like running, going to the gym and general strenuous activities. People affected with CF usually have a life expectancy of around 40 years assuming that the
Cystic fibrosis is an inherited disease that ultimately leads to death. It affects every racial group worldwide, but its prevalence varies from country to country. In those with cystic fibrosis, the lungs and digestive system are primarily affected by the disease. With the new developments in treatment and management, the 50 percent survival rate from the 1970’s has greatly improved, allowing patients to continue to live their lives longer than ever expected in the past. The new developments in prevention of exacerbations, therapy drugs and methods to preserve lung function have done great things to help patients extend their lives. Education is another important aspect of treating cystic fibrosis. For example, more the
Cystic Fibrosis, a very serious inherited genetic disease, is also known as CF and sixty-five roses. This disease affects one in every 3,000 live births. It may first appear in a newborn, but can appear all the way up until a young adult. However, ten percent of most cases are apparent at birth. CF affects the lungs and causes a build-up of abnormally thick mucus which leads to chest infections, and CF also affects the reproductive system. Doctors do not know what causes the mucus to thicken. CF’s infections usually lead to death in childhood and early adulthood. Most people infected with CF had a life span into their teens long ago. Now, due to advanced technology, the life span is in the fifties or older.