Cystic Fibrosis

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 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.

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

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 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 hereditary disease of the secretory glands (National Heart, Lungs, and Blood Institute[NHLBI] , "What Is Cystic Fibrosis?", 2013). People who have cystic fibrosis inherit two defective genes, one from each parent (NHLBI , "What Is Cystic Fibrosis?", 2013). The body parts affected by cystic fibrosis are the lungs, pancreas, intestines, sinuses, and sex organs (NHLBI , "What Is Cystic Fibrosis?", 2013). The gene at fault for causing cystic fibrosis is the CFTR (cystic fibrosis transmembrane conductance regulator) gene (Genetics Home Reference, "CFTR gene", 2014). The transport of salts and chloride in and out of the cells is affected by the mutation of this gene (Cystic Fibrosis Research Inc., "About Cystic Fibrosis"). This disease most commonly affects Caucasians of North European descent (NHLBI , "What Is Cystic Fibrosis?", 2013).

Cystic fibrosis is an autosomal recessive disorder due to a defect in the cystic fibrosis transmembrane receptor, protein buildup causing thick mucus and secretions in lungs, pancreas, liver & intestines. The clinical manifestations include respiratory with recurrent lung infections (S. aureus, Pseudomonas), productive cough, dyspnea, chest pain, wheezing, the gastrointestinal with meconium ileus at birth, later failure to thrive, chronic diarrhea, systemic with infertility and heart exhaustion. Obstructive Lung disease, pancreatic insufficiency, elevated chloride in sweat diagnostic will lead to a bronchiectasis, infertility, growth delays and Meconium Ileus (MC initial presentation)

Cystic Fibrosis is an inherited disease caused by mutations in a gene on 7th pair of chromosomes. 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 “A person with CF produces abnormal CFTR protein — or no CFTR protein at all, which causes the body to make thick,

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.

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

The gene that’s responsible for causing Cystic Fibrosis is on chromosome 7. The most common

The fundamental causes of cystic fibrosis is a defective, hereditary gene that one must receive from both parents. The CFTR gene, located on chromosome 7. Since cystic fibrosis is a genetic disease, the only way to cure it would be to fix the DNA that went astray. Currently,

Cystic fibrosis (CF) is an inherited chronic disease that must be carried by both parents in order to for the person to suffer from it. If one of your parents has it, then you will definitely be a carrier of the disease and it will be carried to your offspring. Children who inherit a faulty CFTR gene from each parent will have CF.

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.