Genetic Disorders: Cystic Fibrosis

Cystic Fibrosis is a life threatening condition that causes severe damage to the lungs and digestive system. Developing this condition can change a person's entire life. Depending on the severity of the condition a person can be affected by mild symptoms such as shortness of breath, all the way to severe symptoms such as rectal prolapse, or even death. Screening is done on infants in all 50 states; therefore if a child has inherited Cystic Fibrosis it will be known in the first months of life. As professional staff members of a nursing community it will be necessary to help prepare the child and the family for the life of Cystic Fibrosis.

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.

The Cystic Fibrosis Foundation provides support to help improve the lives of people who live with the disease. The foundation’s main goal is to find a cure to Cystic Fibrosis is an inherited disease caused by changed in a gene on chromosome seven. It is described as a buildup of mucus in the lungs and organs. The mucus in the lungs clogs the airways and bacteria grows, gets blocked in and eventually leads to infections that causes lung damage. After lung damage has occurred, respiratory failure then happens.

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

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

This mucus build up also causes wheezing and difficulty breathing. Recently, it has become more common for individuals with cystic fibrosis to receive lung transplants during the end stages of lung disease. As mentioned, the symptoms of cystic fibrosis are life threatening, and the majority of deaths are the result of respiratory failure after battling lung diseases and infections that come as a result of the mucus build up. The life expectancy for an individual with cystic fibrosis ranges in the mid-thirties. Another symptom that comes as a result of cystic fibrosis is digestive issues. The thick mucus that affects the respiratory tract also often blocks the tubes that are crucial to digestion because they carry digestive enzymes. Without these digestive enzymes being transported to the small intestine, individuals with cystic fibrosis cannot fully absorb the nutrients they eat. These digestive issues lead to reduced weight gain and growth in individuals with cystic fibrosis as well as severe constipation. In some cases, the large intestine may begin to protrude, a symptom referred to as rectal prolapse, and may need to

Cystic Fibrosis affects 1 in every 2,500 children at birth. (ncbi.nlm.nih.gov) Cystic Fibrosis, or CF, is a genetic disorder. A genetic disorder is inherited, and is contributed to by both parents. (lung.org) Each parent has one abnormal gene. (lung.org) Cystic Fibrosis is where the body can not make, or it makes an abnormal version of the CFTR protein. CFTR is also known as cystic fibrosis transmembrane regulator. There are several symptoms, and causes of Cystic Fibrosis. These symptoms are diagnosed, according to what causes CF. Cystic Fibrosis is an inherited disease, that when after diagnosed, doctors will suggest treatments to help with the condition. Cystic Fibrosis is most common in white infants, but can

The type of mutation that causes Cystic Fibrosis occurs in the CFTR gene, or Cystic Fibrosis Transmembrane Conductance Regulator gene. This gene is important to the body because it helps provide channels that transport negatively charged particles (chloride ions) in and out of the cell. Chloride has an important role in the human body by how it controls the movement of water in tissue, which allows mucus to become thin. Mutations in the CFTR gene interrupts the function of the chloride channels. It makes the regulating process of the flow of chloride ions and water across the cell membranes not happen. This causes passageways to produce mucus that is very thick. The thick mucus causes these passageways to clog, and trap

Cystic Fibrosis is a genetic disorder that cause very serious damage to the lungs and also the other parts of the digestive system. Cystic fibrosis affects the cell in other ways like harming the cell that produces mucus, sweat and also digestive juices. The are normally thin and glossy so that makes it very slippery. In people with CF, a defective gene causes a thick, buildup of mucus in the lungs, pancreas and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients. People with cystic fibrosis are at greater risk of getting lung infections because thick, sticky mucus builds up in their lungs, allowing germs

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

According to Grossman (2005), Cystic Fibrosis also Known as “CF”, is a genetic or an inherited disorder develop due to a defect of cell protein function. An individual can inherit Cystic Fibrosis only when both parents meaning both the person’s father and mother are carriers of this dysfunctional gene. The abnormal cell protein that causes Cystic Fibrosis is known as CFTR or cystic fibrosis transmembrane regulator. This particular type of cell protein helps maintain a balanced movement of certain form of salt and water in the body’s cell. In Cystic Fibrosis, this movement of salt and water in and out of the body cells become impaired leading to a thickened mucus. The Cystic Fibrosis Foundation point out on his website that both boys and

people with Cystic Fibrosis. Most of these mutations change single protein amino acids in the CFTR

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).

Cystic Fibrosis is not a new age disease by any means. It can be traced back thousands of years before anyone really understood that is was a disease, or even what might be causing all the symptoms. In European literature warnings can be found about infants that leave a salty taste on the lips after kissing will soon die. It is mentioned in medical textbooks as early as 1595 which linked the salty tasting skin in infants to pancreatic damage which would lead to early death of these individuals. The first official description of this cystic fibrosis was written by Dr. Dorothy Anderson in 1938. Dr. Andersen was an American Pathologist who came up with the name “cystic fibrosis of the pancreas” from multiple autopsies