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 (CF) is a genetic disorder in which mucus glands produce abnormally thick secretions. These secretions can lead to chronic infections of the lungs and eventually lead to obstruction of the pancreas, resulting in digestive enzyme deficiency, the liver is also sometimes affected. Secretions from the sweat and salivary glands of a CF patient frequently contain abnormally high amounts of sodium and chloride. Because the body produces a high amount of salt, a sweat test is generally used to diagnose the disorder.

Cystic Fibrosis causes abnormal amounts of excessively thick and sticky mucus to develop within the lungs, airways and the digestive system. Due to the thick and sticky mucus, digestive functions in the pancreas are impaired and bacteria is trapped in the lungs causing recurrent lung infections. Cystic Fibrosis Victoria (2015) states that symptoms of Cystic Fibrosis can include:

Cystic Fibrosis is one of the most common and fatal genetic diseases in the United States. Cystic Fibrosis is a disease that causes the body to produce a thick, sticky mucus that clogs the lungs. This can lead to infection and blocks in the pancreas, which stops digestive enzymes from reaching the intestine where they are required in order to digest(“Learning About Cystic Fibrosis,” 2013). Cystic Fibrosis can go undiagnosed for a long period of time. For example, Mackenzie Dondanville 11 years old, four years ago, who had been coughing a lot for the previous year and a half. Due to her being physically athletic while competing in soccer, her pediatrician thought her cough and shortness of breath was due to exercise-induced asthma. It wasn't until Mackenzie's prescribed inhaler isn't working, that they realized something more was going on (“Mackenzies Story,”2018).

Cystic Fibrosis is a genetic disease which is progressive and limits breathing ability. The lungs and other organs are affected by a thick buildup of mucus. This mucus traps bacteria which leads lung damage, infections, and respiratory failure. The digestive enzymes being released is prevented, affecting the breakdown of food and nutrients being absorbed. ?More than 30,000 children and adults in the United States have Cystic Fibrosis. 70,000 people worldwide.? (Diagnosed With Cystic Fibrosis, Cystic Fibrosis Foundation) Someone who has Cystic Fibrosis have a defective gene from each parent which produces faulty protein. The CFTR gene is the gene that is mutated causing this. The channel that transports chloride in and out of cells is created by instructions that are created by CFTR gene. The regulation of chloride ions and water are prevented creating the thick mucus formed on the passageways of lungs, pancreas, and other organs. Cystic Fibrosis doesn?t cause learning problems are mobility of the person. Babies with this still develop and grow up normally. The average life expectancy is close to 40 years, and has been increasing in the last fifty years thanks to improved care. ?Chronic coughing, recurring chest colds, wheezing, shortness of breath, frequent sinus infections, and allergies that last all year, are the most common symptoms of Cystic Fibrosis.? (Cystic Fibrosis Symptoms) Since this disease is progressive

The genetic disease that I am writing about is called Cystic Fibrosis. Cystic Fibrosis is a genetically transmitted disease that is caused by a defective gene that makes the body produce abnormally thick and sticky mucus, impacting your lungs, pancreas, liver, intestines, sinuses, sex organs and sweat glands. Cystic Fibrosis makes this mucus can clog up your lungs and pancreas making it difficult to breath and serious digestive issues. This amount of thick mucus in the lungs can cause repeated lung infections or even permanent lung damage. The disease may also affect the sweat glands and a man's reproductive system. There are a lot of different symptoms of Cystic Fibrosis depending if it is affecting your digestive system or your lungs and

This can lead to infections which block the airways and cause frequent coughing that brings up thick sputum (NHBLI, 2013). Reports show that nearly 50% of affected children develop a chronic cough by 10 months of age (Scott, 2013, p. 494). Sinusitis, bronchitis, and pneumonia are also common and can cause long-term lung damage (NHBLI, 2013). Cystic fibrosis can block ducts in the pancreas preventing digestive enzymes from reaching the small intestine. In result, intestines cannot absorb essential nutrients causing diarrhea or bulky, greasy stools, and constipation (Mohamed & Solan,

While the buildup of mucus on the lungs doesn’t allow the person to breathe as well, the buildup of mucus in the pancreas doesn’t allow the release of digestive enzymes that help the body break down food and absorb nutrients. There are many symptoms that come along with Cystic Fibrosis. The main symptom of Cystic Fibrosis is wheezing and shortness of breaths along with always having some type of lung infection

According to the CFF Homepage several clinical manifestations include; salty-tasting skin, persistent coughing, often times with phlegm, common lung infections, wheezing, shortness of breath, poor growth or weight gain in spite of a good appetite, regularly greasy, bulky stools or constipation, and male infertility. Salty-tasting skin occurs because the epithelial cells on the sweat glands are affected, large amount of salt is released when the patients sweats, leaving a salty frosting on the skin. A persistent cough is expected because the lungs are trying to remove the phlegm and clear the airway. Lung infections are frequent because the “buildup of mucus makes it easier for bacteria to grow and cause infections” (What Are the Signs and Symptoms of Cystic Fibrosis? (n.d.)). Wheezing and shortness of breath are also caused because of the buildup of mucus in the lungs. Patients with cystic fibrosis have poor growth or weight gain in spite of a good appetite, as the mucus that lines the intestines enables the patient from getting enough nutrients because the pancreas cannot release the necessary enzymes to help absorb fats and proteins. Since the intestines cannot fully absorb fats and proteins, this causes regular greasy, bulky stools or constipation. “In 97–98% of men with CF, a bilateral congenital absence of the vas deferens (CBAVD) blocks the transport of spermatozoa from

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 the most common genetically inherited disease in Australia with one out of every twenty-five people are carriers of the CF gene or similar gene mutations that end in a CF , symptoms of Cystic Fibrosis depend on the level of severity of the gene. Carriers will develop thick and sticky mucus within the lungs, airways, as a result carriers will experience a persistent and difficult cough, breathlessness, the inability to exercise, constant lung infections, inflamed nasal passage is the reason the life expectancy is 25 years of age. The CF gene also has a significant effect on the digestive symptoms such as foul smelling and greasy excretes with strain to excrete, intestinal blockage, the inability to gain weight and constipation.

The signs and symptoms of Cystic Fibrosis are going to involve the respiratory, gastrointestinal, reproductive and occasionally sweat glands. Usually we will see symptoms as early as birth as well as later in life. The very firsts signs of CF are noticed by parents on a new born child, when the child does not pass his stool(meconium) as well as a salty sweat in the forehead when kissed. (Health, 2013) Some relative sign and symptoms of the respiratory system include: cough, thick sputum, lung infections and sinus infections. The digestive system symptoms are a result of mucus blocking ducts and tubes. Constipation, stomach pain, Diarrhea, foul-smelling, greasy stools and poor weight gain are some of the main sings of CF. In the reproductive system females will have a hard time conceiving due to mucus in the cervix whereas males are considered infertile because they are born without a vas deferens tube. Other common signs and symptoms mostly seen with patient who have CF are salty sweat, fatigue, weakness, increased heart rate and decreased blood pressure.

The overarching effect of cystic fibrosis is the production of a thick mucus from the epithelial layer of the respiratory, digestive and reproductive systems. In the lungs, a thick layer of mucus accumulates and makes it difficult for individuals with cystic fibrosis to breath. In the pancreas, the ducts are clogged with mucus and digestive enzymes are unable to reach the small intestine. Failure to secrete digestive enzymes leads to malnutrition, failure of growth and late development in children. In the intestines, both small and large, the accumulation of the abnormal mucus can lead to bowl obstructions.

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

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