Essay On Cystic Fibrosis

Abstract: The main goal of this paper is to explain what Cystic Fibrosis is and also to explain what

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 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

It measures the amount of salt in sweat. The sweat test is done two times. They use pad or paper to collect the sweat and than analyze it. Other tests might also be done. One of them may be a genetic tests, this test helps find what type of mutation in the CFTR gene is the cause of CF in a person. A chest ray test might also be done to show if the lungs are inflamed, scarred or trap air. A sinus test shows signs of sinusitis in a person. A lung function test shows how much air the person breathes, how fast they can breath air and how the lungs deliver oxygen to their blood. A sputum culture test requires a sample of the persons spit to determine if they have bacteria growing in it. About 30,000 children in the united states have cystic fibrosis. 70,000 world wide have cystic fibrosis and more than 10 million americans are carriers of a defective CFTR gene. One in every 31 americans are carriers of a faulty CFTR gene. Cystic fibrosis is a disorder that affects everyone both males and females from all racial and ethnic groups. Cystic fibrosis is the most common among caucasians of the northern Europe decent it occurs in 1 in 2,500 to 3,500

There are many treatments for cystic fibrosis. First treatment the patient can get is air way clearance. Air way clearance help loosen and get rid of the thick mucus that can build up in the lungs. The second treatment they can use is the pancreatic enzyme supplement. These treatment capsules helps improves the absorption of vital nutrients. These supplements are taken with every meal and most

Cystic fibrosis is an inherited disease. It’s very common In the United States. It’s also very common amongst the Caucasian population. Its effects 1 in every 3,000 new born babies. Cystic fibrosis is less common in other ethnic groups. Effecting 1 in every 17,000 African Americans and 1 in every 30,000 Asian Americans. It causes the body to make a very thick type of mucus. The mucus is caused by an unbalance in salt in a person’s body. Leaving few to no salt and water on the outside of cells. When this happens the thin mucus that keeps the lungs free of germs becomes sticky. Cystic fibrosis effects the liver, lungs, pancreas, and the intestines. This disease makes it hard to breath and causes serious lung infections. The mucus affects the digestion by blocking the pancreas

The signs of cystic fibrosis varies from person to person. With this disease, some experience the severity of conditions at adolescence while others will not experience any symptoms until adulthood. The most prominent symptoms affect both the respiratory and digestive system.

It is mandatory to screen newborns for cystic fibrosis in all 50 states. This is done so the condition can be diagnosed during the early months of life and treatment can start soon. Those who were born before the mandatory screenings were implemented had to monitor signs and symptoms of cystic fibrosis to be screened and diagnosed.

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

The main goal of any treatment for someone who has cystic fibrosis is to prevent and/or control lung infections, loosen and remove the mucus build up in the lungs, prevent and treat intestinal blockage and ensuring proper and adequate nutrition. If the treatment includes medications, antibiotics would be used to treat and/or prevent lung infections. To help get the mucus up and out of the lungs, mucus-thinning drugs will be used to improve lung function. By relaxing the muscles around the bronchial tubes, bronchodilators can help keep the airway open. Lastly are oral pancreas enzymes which help the digestive tract absorb nutrients. Non-medication treatments include chest physical therapy which helps the thick mucus loosen and in turn makes it easier to cough up. There is also something available called pulmonary rehabilitation which is something that can help improve lung function in an outpatient setting and this may include exercise training, nutritional education, breathing techniques to conserve energy and counseling and/or support groups. There are also several surgical procedures that can improve quality of life for patients with cystic fibrosis. These in removal of any nasal polys to help breathing, oxygen therapy to help prevent pulmonary hypertension or high blood pressure in the lungs, endoscopy and lavage treatments to

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 (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

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.

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 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.