Cystic Fibrosis Research Paper

Cystic fibrosis is a disorder that causes severe damage to the respiratory and digestive system. (Saint Francis Medical Center) It is caused by an inherited defective gene from both parents, specifically the CFTR gene, which causes the cells to overproduce mucus, digestive juices, and sweat. Normally, the fluids that are secreted are slippery and thin. However, with cystic fibrosis, the defect in the gene causes thick and sticky secretions. Instead of the secretions having lubricant properties, it clogs up tubes, passageways, and ducts, especially in the pancreas and lungs.

Cystic fibrosis is caused by defects in the cystic fibrosis transmembrane conductor regulator (CFTR) gene, which codes for the CFTR protein (Sartin, 2013). The CFTR protein is a chloride channel present in secretory glands and the epithelial cells of numerous organs. Due to the high affinity of chloride, sodium and water, CFTR protein plays a vital role in the homeostatic

Cystic Fibrosis is caused by a genetic defect in Chromosome 7. Chromosome 7 encodes the cystic fibrosis transmembrane conductance regulator, also known as CFTR. There are over 1,000 mutations of this gene causing cystic fibrosis, with each mutation manifesting as a different variation of disease onset and clinical presentation. The most common mutation is the loss of phenylalanine residue at deltaF508. The abnormal functioning CFTR causes impaired chloride transport and more viscous secretions. The defect causes dehydrated secretions in the respiratory tract and gastrointestinal tract. Being dehydrated, these secretions become more difficult to move throughout the body. Along with impaired mucociliary clearance, this leads to chronic infection and inflammation, which in turn leads to more impaired mucociliary clearance. It unfortunately becomes an endless

Cystic fibrosis also known as CF is a rare life threatening genetic disorder. CF causes individuals with this disorder to have persistent lung infections, in turn limiting their breathing. Individuals with cystic fibrosis, have a mutated gene that causes a thick, build-up of mucus in the lungs. Generally, it affects many of the body’s organ systems and is only found in about 200,000 people per year in the United States. Cystic fibrosis is the most widely recognized, life-shortening hereditary sickness in Caucasians. It influences the vehicle of salt and water crosswise over cells and influences distinctive organs, yet lung infection is in charge of the dominant part of manifestations, weight of care, and lost years of life. The quality that causes the sickness has now been recognized and sequenced. (Junge et al., 2016)

People with this disease typically have higher levels of sodium and chloride concentrations than a person without the disease (Davies 2007). This is because of the missing gate of the chloride channel that the CFTR protein regulates, as described earlier. The most common organs to be affected by cystic fibrosis are the upper and lower air ways, reproductive tracts, pancreas, and bowel. In each organ, there is a buildup of mucus. By not being able to expel the mucus in the lungs, breathing becomes tougher and tougher and infections are very common (Ezzell, 1992).  A CF patient’s main problem is often with their lungs because they cannot effectively clear out the bacteria that has been inhaled. The immune system tries to fight this bacteria, but it ultimately causes a great inflammatory response. To compare just how bad the inflammation is, it is ten times more inflamed than a person with a lower respiratory tract infection (Davies,

Cystic fibrosis transmembrane conductance regulator (CFTR) is the healthy version of the CF gene; CFTR serves an important function in creating sweat, mucus, and digestive juices. The altered CF gene changes CTFR. When CTFR doesn’t make the channel, it causes abnormal ion transport. The CF gene makes sweat too salty and changes the consistency with the mucus in the airways and other organs. Normally mucus is thin and slippery .It usually removes dust and germs in the airway but with thick mucus clogs tubes and other organs. Scientist still do not

What type of mutation is it? People who have cystic fibrosis have a faulty gene on chromosome 7, this is called CFTR which stands for cystic fibrosis transmembrane conductance regulator. The protein that is produced by this gene usually helps salts (sodium chloride) move in and out of cells, but if the protein doesn’t work like it is suppose to, the movement is blocked and an abnormal thick mucus is produced on the outside of the cell. The cells which are mostly affected are the lung cells.

This essay will investigate the chronic respiratory condition cystic fibrosis, and its prevalence in both Australia and America. Lastly, the essay will also examine methods of prevention and treatment for the condition.

Cystic Fibrosis is a hereditary disease that affects the lungs and the digestive system. It causes thick, sticky mucus in the lungs that causes the lungs to clog and block the pancreas. This disease can be life threatening and the majority of people who are diagnosed are under the age of two. People with cystic fibrosis usually have a shorter than average life span. For a child to inherit the disease both parents must have the gene for the disease. Over 10 million people don’t know that they carry the gene.

This disease is considered as inherited disease mostly among Caucasians, where approximately 1000 new cases are recorded every year. Latinos and American Indians are among the races most likely to acquire CF by genetic characters and less prevalent among African American. Statistics from the health agencies had recorded that there are more than 10 million Americans who have faulty CF gene carriers without them knowing it (Buckingham, 2012). Based on the Changing Epidemiology of Cystic Fibrosis reported by Simmons (1992) in Journal of Pediatrics, he said that from 17,857 patients treated with cystic fibrosis Foundation demonstrated a significant shift in the age distribution of patients. The adult patient population increased and in 1990s the median age range of patients with this disorder is 12.5 years old. Statistics revealed that among the surveyed patients, 90% of those belong to age 12 was diagnosed with CF. Median survival age doubled in later years from age 14 to 28 years. Females are found to have lower median survival age than males. Etiology The main cause of cystic fibrosis is hereditary where a carrier parents may transmit the faulty CFTR to her offspring, whereas if such gene is transferred to the child, the latter has the chance of 25 percent of developing CF. Experts claimed that if the child acquired the faulty CFTR gene from only one parent, say

Cystic fibrosis (CF) is a chronic disease that imitates organs such as the liver, lungs, pancreas, and intestine. It interrupts the body’s salt balance, separating little salt and water on the exterior of cells and affecting the thin layer of the mucus that normally keeps the lungs free of germs to become dense and tacky. This mucus is tough to cough out, and it chokes the lungs and airways, leading to infections and injured lungs. It is also known as mucuviscidosis because of the mucus that constructs up and blocks the respiratory system and pancreas. "A defective gene causes the body to produce an abnormally thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections. These thick secretions also obstruct the pancreas,

Cystic fibrosis comes from a mutated gene known as the CFTR gene which codes for a transmembrane protein. This protein allows ions such as chloride and bicarbonate to flow through it using energy such as ATP. “This gene is expressed in epithelia throughout the body and affects exocrine functions.” CF is an autosomal recessive gene. This means that if both parents are found to be carriers of a mutated gene, heterozygotes, and their offspring received both of the recessive genes then that offspring will have cystic fibrosis. Depending on how the mutated gene is inherited,there can be varying degrees of how cystic fibrosis is expressed. There are over 1,500 types of CFTR mutations but the

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)

Cystic fibrosis is an inherited genetic disease that currently affects approximately 30,000 Americans and 70,000 people worldwide. The isolated gene malformation affects the exocrine glands that results in alterations in the physiologic functioning of the respiratory, gastrointestinal, and reproductive systems (Ball and Bindler, 2014). The name cystic fibrosis refers to the characteristic cysts and fibrosis that occurs within the pancreas. It is the most common autosomal recessive disorder amongst Caucasians and is present at birth, hence its importance when studying pediatric nursing (Litin, 2003).

Cystic fibrosis is the most common autosomal recessive disorder in Caucasian’s with an incidence rate of 1 in every 2,500 births. Cystic Fibrosis, commonly known as CF, is a life-threatening, lethal genetic disease that mostly affects the lungs and digestive system (O’Sullivan & Freedman, 2009). An individual with cystic fibrosis has a specific mutation in a gene and protein called cystic fibrosis transmembrane conductance regulator (CFTR). This protein acts as a channel for ions, which help the body in healthy balance of salt and water. An individual with this mutation of CFTR creates sticky, thick mucus (Falvo, 2014 p. 486). This abnormal mucus affects individuals with CF by forming blockage in their respiratory track and obstruction in his or her pancreases (Ratjen & Doring, 2003).