Cystic Fibrosis Essay

Cystic Fibrosis (CF) is an autosomal recessive genetic disease that causes thickened mucus to form in the lungs, pancreas, and other organs. It affects a specific protein called Cystic Fibrosis Transmembrane Regulator (CFTR) that controls the normal movement of sodium, chloride, and water in and out of the cells within the body. Those diagnosed with CF have either too little or abnormal CFTR. When CFTR is absent or defective, the mucus usually secreted by the cells in the pulmonary airways, pancreatic ducts, and gastrointestinal tract become thickened, leading to obstructions, frequent infection, and loss of function in the affected organs (Cystic Fibrosis Symptoms, Causes & Risk Factors, 2018). According to the Cystic Fibrosis Foundation

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

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

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.

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.

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 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.

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 cannot be developed or contracted it is something you’re born with. CF is a recessive disease, it occurs when a child inherits one defective copy of the gene from each parent. This gene mutation is responsible for cystic fibrosis. ("Cystic fibrosis Canada," 2011) This gene is known as the CFTR gene ("www.medincinet.com," 1996). Reference Figure 3. The “gene makes 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 makes a protein that doesn't work right. This causes the thick, sticky mucus” ("www.medincinet.com," 1996).

In the respiratory system, the mucus causes breathing difficulties, frequent respiratory infections and eventually permanent lung damage. The mucus builds up providing bacteria with a place to flourish. The most common infection comes from a bacterium called Pseudomonas aeruginosa. The body's response to P. aeruginosa includes inflammation, which causes episodes of intense breathing problems (Pseudomonas Genome Project, 1998). Normally the body will get rid of excess mucus by coughing before it's a problem but with the thick mucus involved in CF the body has a harder time to get rid of the thicker mucus. Lung disease is the usual cause of death in most patients (National Institutes of Health, 1995). In the digestive system, mucus can block the supply of enzymes used to break down food. The result of the blockage of such enzymes is malnutrition. The patient will have an excessive appetite but will not experience any weight gain. What is also evident is a failure to grow, CF was often misdiagnosed vaguely as "failure to thrive" when physicians didn't know the reason for this poor growth. Sweating is also a problem in people with CF. One of the basic defects in CF is the faulty transport of sodium and chloride (salt). People with CF lose excessive amounts of salt when they sweat. This causes the natural balance of salt in the body to be off balance, which may cause abnormal heart rhythms (National Institutes of Health, 1995).

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.

Cystic fibrosis is due to a mutation in the gene that encodes cystic fibrosis transmembrane conductance regulator (CFTR) protein. It effects the exocrine glands which are responsible for making mucus and sweat. It causes a thickening of the mucus in your body and increases the salt content of your sweat. These can lead to problems including problems absorbing oxygen, lung infections, inhibit digestive enzymes from reaching your small intestine, dehydration, increased heart rate, lower blood pressure, and infertility. It can also have an effect on reproduction, causing difficulty for women to conceive and infertility in men. People who suffer with cystic fibrosis are also at a higher risk of getting diabetes, liver disease, osteopenia and

i. Cystic Fibrosis (CF) affects those that are homozygous recessive for the F508del mutation in the CFTR (Cystic Fibrosis transmembrane conductance regulator) gene

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

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