Cystic Fibrosis Research Paper

Nearly 1 in every 30 Americans are a carrier of the recessive gene that leads to CF (About Cystic Fibrosis, n.d.). Although CF is a life-threatening condition, through the advancement of treatments and care, there has been a steady increase in life expectancy and improvement in the quality of life. The current mean age of survival is now 40. Although that does not seem very high, sixty years ago, a child diagnosed with CF did not survive childhood (About Cystic Fibrosis, n.d.). CF is a complex disease, where the types and severity of symptoms can differ widely from person to person. Symptoms may include fatigue, salty-tasting skin, persistent cough with phlegm, wheezing and shortness of breath, lung infections, and poor growth and weight loss (Cystic Fibrosis Symptoms, Causes & Risk Factors, 2018). Many different factors, such as the age of diagnosis, can affect an individual's health and the course of the

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 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. People who are born with Cystic Fibrosis have two copies of the gene. One gene is received by each parent. In most cases, parents of people with Cystic Fibrosis, usually both carry the gene, however, the Cystic Fibrosis gene they are carry is recessive compared to the normal gene, allowing the normal gene it take over due to its dominance. This means that they do not have Cystic Fibrosis themselves. According to Cystic Fibrosis Queensland (2015) there is a one in four chance a person will have Cystic Fibrosis, a two in four chance that person will have the gene but not the disease and there is a one in four chance that the person will not have the disease or gene at all. The Cystic Fibrosis gene is easily passed on, however, the disorder not so much. The disorder is only passed on if a person obtains both the Cystic Fibrosis genes from their parents.

In 1955, the Cystic Fibrosis Foundation was formed by mothers who were determined to find a cure for their children who were diagnosed with the disease but were given a small life expectancy. As the years went on life expectancy for people diagnosed with CF increased. In 1965, a four-year-old boy was listening to

Symptoms for cystic fibrosis include diarrhea that does not go away, foul-smelling stools, greasy stools, frequent urinating, frequent episodes of Pneumonia, persistent cough, skin tastes like salt, poor growth, chronic sinus infection.

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.

The CFTR gene creates a protein that controls the movement of salt and water in and out of your body 's cells. In people who have cystic fibrosis, the gene forms a protein that does not work well. This causes thick, sticky mucus and high concentrations of salt in the sweat.

“About 1 in 4,000 children in the United States are born with CF” (Crosta, 2009) and “one in every 3,600 children born in Canada [have] cystic fibrosis” ("Cystic fibrosis Canada," 2011). According to several resources a consensus has formed which proposes that people with northern European ancestry, specifically those that are white, are more likely to be carriers of the disease and thus more at risk of having children with the mutated gene. This risk is even more likely if the other parent of the child is a carrier. Another risk factor for CF is “family history, since the disease is hereditary it increases they likely hood of

Cystic fibrosis is an inherited disorder that causes severe damage to the lungs and digestive system. This disorder is among over 70,000 people worldwide, and about 30,000 just in the United States alone. Nearly half of the Cystic Fibrosis population is age 18 or older, and are normally diagnosed by age 2. Though Cystic fibrosis is a complex disease and the types and severity of symptoms can differ widely from person to person. Many different factors, such as age of diagnosis, can affect an individual's health and the course of the disease. Today the median survival age for having this disorder is close to 40 years old. To most that might seem very young, but this is a huge improvement from what it was in past years. New advances in technology makes it possible for people with this disorder to

This increases bacteria growth and causes infections (NHLBI, "What Are the Signs and Symptoms of Cystic Fibrosis?", 2013). These infections can clog the airways and damage the lungs making it difficult to breath (NHLBI, "What Are the Signs and Symptoms of Cystic Fibrosis?", 2013). The signs and symptoms of cystic fibrosis according to the Cystic Fibrosis Foundation are very salty tasting skin, persistent cough with sputum, frequent lung infections, wheezing, shortness of breath, poor growth, constipation, greasy,bulky stools(Cystic Fibrosis Foundation [CFF], "About CF: Causes, Signs & Symptoms of Cystic Fibrosis | CF Foundation",

Many tests may be performed before a person is ever diagnosed with Cystic Fibrosis. A newborn screening test can be done to check an infants’ blood sample for a certain component related to CF. Many other tests must be completed before diagnosis. A sweat test is necessary for confirmation of CF. If a sweat test is not completely accurate, genetic testing must be

This is still one of the most widely used tests because researchers still do not know exactly which gene is the defective Cystic Fibrosis gene ("Cystic,” Hereditary 47). Patients are usually diagnosed by the age of two but, a few rare causes are not diagnosed until the age of eighteen ("Cystic," umm.edu 1). Since symptoms usually appear early in life patients that are not diagnosed until later in life often have more mild forms of Cystic Fibrosis (Silverstein, Silverstein, and Silverstein 1; "Cystic," umm.edu 1). Luckily today children with Cystic Fibrosis are diagnosed early, in the nineteen-forties children often died from Cystic Fibrosis before they were old enough to attend school ("About" 1). Even though testing for Cystic Fibrosis is exceedingly simple the list of complications and illnesses associated with Cystic Fibrosis is extensive.

Here are some other changes affecting CF patients: Crackles, non-productive or productive cough, physical changes to the chest cavity, cyanosis, and clubbing of the fingernails. Genetic testing should be done since cystic fibrosis is an inherited disorder. Those affected with cystic fibrosis have parents “who do not have cystic fibrosis but are heterozygotes or carriers of the disease. A heterozygote has 1 dominant allele and 1 recessive allele.” (Grossman & Grossman, 2005, p. 46) My co-worker and her spouse are heterozygotes, and they have a 50/50 chance of having a cystic fibrosis child, they were not lucky with the odds and both their sons are affected with cystic fibrosis. These

This is a great improvement over survival rate of the 1950s with the life expectancy of 1 year or less for cystic fibrosis patients. Unfortunately, since it is a recessive genetic disease, there are many men and women who are carriers of the disease without actually having the disease themselves. If each parent is a non-affected carrier of cystic fibrosis, there is only a 25 percent chance of having a non-affected, non-carrier child and 50 percent chance of having a child that is a non-affected carrier of cystic fibrosis. Unfortunately there is also a 25 percent chance of having a child affected by cystic fibrosis. This makes prenatal genetic screening very important.