Cystic Fibrosis: An Overview Essay

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 is an inherited condition. However, the gene for Cystic Fibrosis is recessive and

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 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

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

Five year old Ellis Miles undergoes numerous treatments each day to counteract the symptoms that accompany cystic fibrosis including physiotherapy, pills containing digestive enzymes, and a treatment which breaks up the mucus in her lungs. Cystic Fibrosis has numerous life threatening symptoms and while there is no cure, there are several treatments that a typical patient undergoes each day to combat these symptoms. The most prominent symptom associated with Cystic Fibrosis is a thick mucus that clogs up tubes that carry out crucial roles in the human body. This mucus especially affects the respiratory tract. Mucus builds up in the respiratory tract making it difficult for individuals with cystic fibrosis to have a frequent cough that produces a thick

Cystic fibrosis is an inherited disorder that causes severe damage to the lungs and digestive system. This disorder is among over 70,000 people worldwide, and about 30,000 just in the United States alone. Nearly half of the Cystic Fibrosis population is age 18 or older, and are normally diagnosed by age 2. Though Cystic fibrosis is a complex disease and the types and severity of symptoms can differ widely from person to person. Many different factors, such as age of diagnosis, can affect an individual's health and the course of the disease. Today the median survival age for having this disorder is close to 40 years old. To most that might seem very young, but this is a huge improvement from what it was in past years. New advances in technology makes it possible for people with this disorder to

During the 1990s evidence emerged confirming the dangers of cross-infection among people living with cystic fibrosis, which radically altered how people thought about social contact within both CF centres and the wider cystic fibrosis community. Things have come along way since the seventeenth century, when the salty taste found on a child with cystic fibrosis was considered a sign of bewitchment! Today, diagnostic tools such as newborn and antenatal screening, and carrier testing, together with better understanding and treatment of the disease, has lead to increased life expectancy and quality of life. Advances in technology and research continue to provide hope for the future in the fields of clinical care, and drug therapy (Cystic Fibrosis Trust).

Cystic Fibrosis is a transmissible disease that causes damage to the digestive system, lungs and other organs in the body. Cystic Fibrosis affect cells that produce mucus. It causes the mucus which is normally a slimy secreted substance, to be thick. Saliva is usually used as a lubricant that protects the lining of airways and other organs. The thickness of the mucus builds up and can cause you to get infections which can result in permanent lung damage, including the forming of scar tissue (fibrosis) and cysts in the lungs (Bet-Sheva et al. 1989) .Cystic Fibrosis is caused by a mutation in the cystic fibrosis gene on chromosome 7, which is a gene that encodes a protein know as cystic fibrosis transmembrane regulator (CFTR). The CFTR protein

(cure, care, prevention, if any?) There is currently no cure for Cystic Fibrosis. A person who has Cystic Fibrosis may consume up to 40 capsules daily which assist them to digest food, in some cases sufferers always may need to do up to three hours of airway clearance every day. Treatment generally includes some of the following: intensive daily physiotherapy to clear the lungs, salt and vitamin supplements, exercise (as it is important to clear airways) and antibiotic therapy to treat lung infections. From birth a person who has Cystic Fibrosis undergoes consistent medical treatment and

Cystic Fibrosis is a medical condition in which a thick and sticky mucus progressively covers organs, causing them to malfunction. This disease is commonly known for affecting the lungs and bronchi, however there are many more risks the disease brings to organs. Not only does Cystic Fibrosis bring risk to organs, it runs risks to all people. Everyone carries two CFTS genes, however the genetic disease only occurs hereditarily in offspring of two carriers holding damaged CFTS genes. Cystic fibrosis brings a fragile lifestyle to its carriers, and to the tissue and organs of carries. Scientists are trying to find good in the commonly known as “Bad” gene. However, it takes genetic break down to understand the good and bad points of Cystic fibrosis.

i. Cystic Fibrosis (CF) affects those that are homozygous recessive for the F508del mutation in the CFTR (Cystic Fibrosis transmembrane conductance regulator) gene

The protein of the cystic fibrosis gene is called the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). The gene is located on 7q31.2 long arm of chromosome 7 at position 31.2. The CF gene also has 27 exons and is made up of 250,000 DNA nucleotides. CFTR moves chloride ions out of cells which is very important for salt and water balances on the epithelial cells.

Lisa seems to have some knowledge of cystic fibrosis, which is presumably why she has came in wondering if she is a carrier of the disease. Cystic fibrosis is considered autosomal recessive, which means that she could be a carrier since her brother has this disease (“Autosomal Recessive,” n.d.). “One is inherited from the mother, and 1 from the father. If you only have 1 recessive gene, you are a “carrier” for the trait or disease, but you do not have any health problems” (“Autosomal Recessive,” n.d.). Her spouse should be tested in order to figure out if he also is a carrier. It is a good idea to have genetic testing done for this disease since it can have a negative impact on the child. “With improved treatment and management of