Cystic Fibrosis
Nicholas Culver
Introduction
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
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One copy from each parent. Both parents must have at least one copy of the defective gene. People with only one copy of the defective CF gene are called carriers, but they don’t have the disease. This gene makes a protein not work very well which causes the thick mucus and very salty sweat.
Scientists have found more than 1,700 different mutations in the CFTR that can cause CF. Scientist have spent years trying to put these thousands of mutations into groups. They’re so many types of mutations but here are just some of them. Protein Production Mutations include splice mutations. These interfere with the production of the CFTR protein. IF the CFTR gene has a splice mutation the protein building instructions send a signal that causes the production of CFTR protein to stop. Gating Mutations is another mutation of CF. The CFTR protein is shaped like a tunnel with a gate. The cell can open the gate when chloride needs to flow through the channel. Otherwise, the gate stays closed. Mutations lock the gate in the closed position so that chloride cannot get
Cystic Fibrosis, also known as CF, is one of the most common life-threatening genetic disorders found in people. Discovered in 1938 by Dr. Dorothy Hansine Andersen, Cystic Fibrosis severely affects two parts of the human body, including the respiratory system and the digestive system. Cystic Fibrosis causes the mucus glands to secrete very thick and sticky mucus. This mucus then clogs the tiny air passages and traps bacteria in the lungs. The thick mucus also stops the release of digestive enzymes in the pancreas from reaching the small intestine. According to Cystic Fibrosis Queensland (2015) more than one million Australians carry the Cystic Fibrosis Gene, with one in every 25 people, often not realising they are carrying the deadly gene.
Cystic Fibrosis is a genetic disease that causes multiple lung infections and limits the ability to breathe over the span of a lime time. Cystic Fibrosis causes a thick buildup of mucus in the lungs, pancreas, and other organs, so Cystic Fibrosis is not only a respiratory disease but can also cause problems in the digestive system.
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
Cystic fibrosis generally affects mainly the lungs, pancreas, liver, intestines, sinuses, and the sex organs. People who have cystic fibrosis can have a variety of symptoms. Some people may only go through a few of them. Though, other people may go though more symptoms that later on can become very severe. One of the earliest symptom of cystic fibrosis that can be noticed beforehand is that the skin of a baby will have a salty taste when kissed. The rest of the symptoms happen later overtime as they start growing up. They affect the respiratory, digestive and reproductive system. One of the signs of cystic fibrosis in the respiratory system is the thick, sticky mucus that blocks the airways. Which causes bacteria to start growing and other infections too. This can also lead to frequent coughing, wheezing noises, and lung infections. Other problems may occur like sinusitis, bronchitis, and pneumonia, these can cause serious damage to the lungs. Cystic fibrosis affects the digestive system in many ways
Cystic fibrosis, also known as mucoviscidosis, is a genetic disorder that affects mostly the lungs but also the pancreas, liver, kidneys, and intestines. Some symptoms are difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms include sinus infections, poor growth, fatty stool, clubbing of the finger and toes, and infertility in males among others. Different people may have different stages of the symptoms. In the lungs the mucus stops the air ways up with bacteria leading to lung damage or maybe even respiratory failure. There is also more major symptoms like very salty tasting skin, pneumonia or bronchitis.
Cystic Fibrosis is an inherited recessive gene which means the disorder won’t affect anyone that’s a carrier. To obtain Cystic Fibrosis there are two ways, either, one parent is a carrier and the other has it (provided the parent with Cystic Fibrosis is female), or both parents are carriers. Parents can find out if they are carriers for Cystic Fibrosis with the use of genetic testing. When both parents are carriers for Cystic Fibrosis there a 25% chance the child will have Cystic Fibrosis, a 50% the child will be a carrier, and a 25% chance the child will not have Cystic Fibrosis nor be a carrier for it. In the United States there is about 30,000 reported cases of children and adults with Cystic Fibrosis, in the US there is an additional 1,000 cases reported each year, worldwide around 70,000 children and adults have Cystic Fibrosis. Cystic Fibrosis is the most common
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 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 (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.
To begin, cystic fibrosis is a genetic disease that causes persistent lung infections and limits the ability to breathe over time. It is an inherited disorder both parents have to be a carrier of the gene. Some people say if a both parents have the gene then their is a 50% chance that the mother will have a baby with the disorder. It affect the
What is Cystic Fibrosis? How does it affect people living with it? Cystic Fibrosis, also known as CF, is a life-threatening hereditary disease. It is inherited by a faulty cystic fibrosis transmembrane conductor (CFTR) gene from each parent (Kowalczyk, 2014, p. 74). This faulty gene makes a defective protein that does not work well and causes the body to produce sticky, thick mucus and very salty sweat("About CF: Causes, Signs & Symptoms of Cystic Fibrosis,"
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).
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 is a disease that affects the body in many ways throughout the patient's life. Newborns with Cystic Fibrosis may experience delayed growth, inability to gain weight, and salty-tasting skin ("Cystic," umm.edu 1). Older patients may be infertile, have recurring pancreatitis, and respiratory problems ("Cystic," umm.edu 2). Considering that these are just symptoms involving age, the full spectrum of ailments that afflict a patient with Cystic Fibrosis is far more taxing on a patient.
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.