Cystic Fibrosis : An Autosomal Recessive Disease

Nearly 1 in every 30 Americans are a carrier of the recessive gene that leads to CF (About Cystic Fibrosis, n.d.). Although CF is a life-threatening condition, through the advancement of treatments and care, there has been a steady increase in life expectancy and improvement in the quality of life. The current mean age of survival is now 40. Although that does not seem very high, sixty years ago, a child diagnosed with CF did not survive childhood (About Cystic Fibrosis, n.d.). CF is a complex disease, where the types and severity of symptoms can differ widely from person to person. Symptoms may include fatigue, salty-tasting skin, persistent cough with phlegm, wheezing and shortness of breath, lung infections, and poor growth and weight loss (Cystic Fibrosis Symptoms, Causes & Risk Factors, 2018). Many different factors, such as the age of diagnosis, can affect an individual's health and the course of the

Cystic fibrosis (CF) is a lethal autosomal recessive disorder with a clinical incidence of 1 in every 3500 newborns1. Currently, over 4000 Canadians have CF, with 60% being adults2. In the past, CF was considered a fatal disease with a life expectancy of less than two years, however, advances in enzymatic and antibiotic therapy have greatly improved the life expectancy of patients afflicted with CF3. Currently, the median age of Canadian CF patients is 50 years2.

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.

In infants symptoms include coughing, wheezing, excess mucus in the lungs, shortness of breath, extremely salty skin and decelerated growth. With infants it is very common for them to develop pneumonia infections because of all the bacteria that resides in the lungs. With treatment, most patients with cystic fibrosis live into their 20’s and 30’s, some individuals with milder cases can live longer. Death is most often due to end-stage lung disease.Thus far no cure for the disease has been found. Although, research on gene therapy is promising. Treatment is generally aimed at alleviating symptoms, preventing infections, and slowing the progress of the disorder. (Egan’s 10th Ed,

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 that is programmed in the victim’s DNA. It is passed on from parents who are both carriers of the defective gene. This genetic disorder affects the respiratory and digestive systems. People who suffer from cystic fibrosis usually inherit a defective gene on chromosome 7 called CFTR (cystic fibrosis transmembrane conductance regulator). Below is a diagram showing how cystic fibrosis is passed on from carrier parents to a child. The diagram shows that when a child is born by two parents who are both carriers of the CFTR defective gene, there is a one in four chance of being born with cystic fibrosis, there is a 2 in 4 chance of being a carrier or a 1 in

Cystic Fibrosis an inherited genetic disorder. This disorder is present when a child has 2 abnormal copies of the CFTR gene. There is a defect or a mutation in this gene that changes the protein which regulates the movement of salt in and out of cells. A mutation or defect is an alteration. This means that there is a change in the CFTR gene which causes it to perform improperly.

Children are usually diagnosed with Cystic Fibrosis at an early age of just 2. Children will start to show early signs of the disease. They will start to feel pain in the lower abdomen and start having extreme episodes of nausea. Cystic Fibrosis is a deadly disease because of all the mucus that is being built up in the lungs. The life expectancy for someone with this disease is usually 37; the number has risen over the past few years with new technology and medicines coming to light. Since the disease has no cure, it takes a huge toll on home life and the family finances because of the advanced treatment planes. Cystic fibrosis is a defective gene disorder,

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

The average life span of a person with Cystic Fibrosis is 25-30 years of age. Although the more traditional treatments of this disease are adequate, is there something else that could be even better? Gene therapy is fast becoming one of the more studied aspects of genetics today. Let's take a look at some details of Cystic Fibrosis and gene therapy.

The health care field is an ever changing job. Each day new research and information is being discovered. We are only scratching the surface for understanding the human body and all of the diseases associated with it. As a nurse, it is my responsibility to continue my education outside of school. It is in my interest and my patient’s best interest for me to be willing to adapt to these changes so I can give the best care for my patients. From reading this article, I was able to understand that even though a patient is diagnosed without having cystic fibrosis or any other genetic disorder doesn’t necessarily mean they don’t have it. The science and research of cystic fibrosis is still expanding and changing each day and there is always the possibility that new information that can help diagnose patients with cystic

     Cystic fibrosis is an inherited autosomal recessive disease that exerts its main effects on the digestive system and the lungs. This disease is the most common lethal genetic disorder in Caucasians, affecting one out of 2,500. On the bioethical front, CF was the first human genetic disease to be cloned by geneticists. The intent of this paper is to describe how the cystic fibrosis gene was identified, how the

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 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