Causes Of Cystic Fibrosis

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 the most common genetically inherited disease in Australia with one out of every twenty-five people are carriers of the CF gene or similar gene mutations that end in a CF , symptoms of Cystic Fibrosis depend on the level of severity of the gene. Carriers will develop thick and sticky mucus within the lungs, airways, as a result carriers will experience a persistent and difficult cough, breathlessness, the inability to exercise, constant lung infections, inflamed nasal passage is the reason the life expectancy is 25 years of age. The CF gene also has a significant effect on the digestive symptoms such as foul smelling and greasy excretes with strain to excrete, intestinal blockage, the inability to gain weight and constipation.

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.

The Main treatment for someone with lung problems with CF is chest physical therapy, which is also called chest clapping or percussion. CPT is done by pounding your chest and back repeatedly with your hands or device to loosen the mucus from your lungs so that you can cough it up. Exercise is also a choice of a treatment plan, exercised that make you breathe harder can help loosen the mucus in your airways so you can cough it up. Medication can also be used to treat Cystic Fibrosis, your doctor may prescribe antibiotics, anti-inflammatory medicines, bronchodilators, or other medication that can help clear the mucus buildup in the lungs(“Cystic

Every day, people die from Cystic Fibrosis. That is why Cystic Fibrosis is known as the most deadly inherited disease. There is no real cure of CF but, right now there are many ways to ease your symptoms and help you manage the condition. “Every day, people with CF complete a combination of the following therapies Airway clearance, Inhaled medicines, Pancreatic enzyme supplement and sometime oxygen therapy depending on how severe your condition is”(McLoud). Since there is so many new advancements in treatment, people who have CF now live twice as long as they did 30 years ago.

Cystic fibrosis (CF) is a serious disease that is life-threatening. This disease is characterized by the buildup of thick mucous in the lungs due to a defective gene within the body. It is a disease that is genetic which means that it is passed down from one’s parents. The disease is genetic because patients with Cystic Fibrosis inherit a defective gene on chromosome 7. This gene is responsible for protein production and the moving of water and salt in and out of the body’s cells. If a person inherits on faulty CF gene from each parent the chances are very high that they will develop Cystic Fibrosis. If the person inherits only one faulty gene from their parents and one normal gene they are known as carriers of CF and usually develop no symptoms of the disease and usually end up living normal lives. However they can pass the faulty gene down to their children.

But because the type/severity of cystic fibrosis can differ from one person to another by a lot, there isn’t any normal treatment plan. One common treatment therapy is airway clearance, in which the affected person wears a vest that vibrates at a high frequency, which loosens and thins the mucus buildup. Another is the usage of inhaled medicines. These medicines help open airways and thin the mucus buildup. The medicines are liquids that are made into a mist and inhaled through a nebulizer. The medicines have antibiotics to help fight lung infections. Also, there are pancreatic enzyme capsules, which help improve the absorption of vital nutrients, and are normally taken with most meals and snacks. In addition to the capsule, people with the disease usually take multivitamins. Two relatively new treatments are a type of drug called a CTFR modulator, which targets the defective CTFR gene. These drugs were only recently approved by the FDA, the first was in 2012, and the second just this year (2015). It is expected that the new drugs could add many years to the lives of people affected by Cystic fibrosis. Also, a cystic fibrosis specialist can treat you. The U.S has about 100 cystic fibrosis care centers, which have teams of doctors/nurses and respiratory/physical therapists who all specialize in Cystic fibrosis care/treatment.

A defect in the CFTR gene, or cystic fibrosis transmembrane regulator gene, is what causes Cystic Fibrosis. Every person inherits two of these genes, one coming from each parent. If a child inherits a faulty CFTR gene from both parents they will have CF. If a child inherits only one faulty CFTR gene, they are considered “CF carriers” ("What Causes Cystic Fibrosis?," 2013). More than 10 million Americans are carriers of the defective CF gene ("Cystic Fibrosis Foundation – Testing for Cystic Fibrosis," 2014). Carriers are able to live a normal, healthy life and they usually have no symptoms of CF, however, they could pass the faulty CFTR gene down to their children ("What Causes Cystic Fibrosis?," 2013). Carrier testing is available to help people identify if they could pass down the gene. The test uses blood samples or scraped cells from inside the cheek to look at a person’s genetic material ("Cystic Fibrosis Foundation – Testing for Cystic Fibrosis," 2014). The figure below shows how the CFTR gene can be inherited (Kotrla, 2014).

Here are some other changes affecting CF patients: Crackles, non-productive or productive cough, physical changes to the chest cavity, cyanosis, and clubbing of the fingernails. Genetic testing should be done since cystic fibrosis is an inherited disorder. Those affected with cystic fibrosis have parents “who do not have cystic fibrosis but are heterozygotes or carriers of the disease. A heterozygote has 1 dominant allele and 1 recessive allele.” (Grossman & Grossman, 2005, p. 46) My co-worker and her spouse are heterozygotes, and they have a 50/50 chance of having a cystic fibrosis child, they were not lucky with the odds and both their sons are affected with cystic fibrosis. These

In the United States there are close to thirty - thousand people and seventy thousand people worldwide living with Cystic Fibrosis today, with the majority of them being over the age of eighteen. CF has over eighteen-thousand mutations, but most of the tests can’t always pick up on them, only the more common mutations of CF. By the age of two, over seventy-five percent of kids containing CF are diagnosed, making over one-thousand new cases of Cystic Fibrosis diagnosed every year. Cystic Fibrosis is caused when both the parents of the child have the CF genes which is why it is a recessive genetic disorder. Thus making it something that isn’t

Cystic fibrosis is a chronic disease that greatly impairs the endocrine, respiratory, digestive, and reproductive systems. Offspring inherit this autosomal recessive disease when both of the biological parents are carriers for the defective CTRS (cystic fibrosis transmembrane conductance) gene, located on the 7th chromosome (University of Utah Health Sciences). This incurable disease causes the secretory glands to produce viscous sweat and mucus, harming the individual’s major organs (lungs, pancreas, liver, intestines, sinuses, and sex organs) and causing them to malfunction. For example, the production of thick and sticky mucus clogs the lungs and leads to growth in bacteria, often causing lung infections and breathing difficulties. However,

This is a great improvement over survival rate of the 1950s with the life expectancy of 1 year or less for cystic fibrosis patients. Unfortunately, since it is a recessive genetic disease, there are many men and women who are carriers of the disease without actually having the disease themselves. If each parent is a non-affected carrier of cystic fibrosis, there is only a 25 percent chance of having a non-affected, non-carrier child and 50 percent chance of having a child that is a non-affected carrier of cystic fibrosis. Unfortunately there is also a 25 percent chance of having a child affected by cystic fibrosis. This makes prenatal genetic screening very important.

Many tests may be performed before a person is ever diagnosed with Cystic Fibrosis. A newborn screening test can be done to check an infants’ blood sample for a certain component related to CF. Many other tests must be completed before diagnosis. A sweat test is necessary for confirmation of CF. If a sweat test is not completely accurate, genetic testing must be

The diagnostic criteria for CF is based on clinical presentation and signs of CFTR dysfunction. The sweat test is widely used as diagnostic method for CF. With the scientific improvement, molecular methods started to become more common and now are used to establish diagnosis in symptomatic and asymptomatic patients. The American diagnostic guideline recommends sweat chloride test and DNA sequencing to all symptomatic patients or patients with family history. Cell-free fetal DNA is still not available

The definition of a genetic disease given by medicalnet.com is “any disease that is caused by an abnormality in an individual’s genome”(Mednet, 2014). Usually, the abnormality can be caused by a small mutation in the DNA gene or an “entire set of chromosomes”. There are four different types of inheritance for genetic disease, which are: Single Gene Inheritance, Multifactorial inheritance, Chromosomal Abnormalities, and Mitochondrial Inheritance. Some examples of the single gene inheritance would include cystic fibrosis, sickle cell anemia, and Huntington’s disease all of which mutations have occurred in a single gene in the DNA. “Cystic Fibrosis affects cells that produce mucus and digestive juices which in result turns these cells into thick cells which clog up air pathways in the lungs and pancreas” (MayoClinic, 2012). Currently, there is no cure for CF but there are treatments given to patients that improve their health. “Most patients with CF carry the F508del CFTR mutation, which causes defective CFTR protein folding and processing in the endoplasmic reticulum, resulting in minimal amounts of CFTR at the cell surface” (Pubmed, 2011). One way to treat the F508 mutation is to fix it with small molecules such as using VX-809, which is the corrector to treat cystic fibrosis. “In cultured human bronchial epithelial cells isolated from patients with CF homozygous for F508del, VX-809 improved F508del-CFTR processing in the