What Are Cystic Fibrosis?

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 (CF) is an inherited disease that affects the lungs and digestive system (National Heart, Blood, and Lung Institute, 2013). CF is caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene located on chromosome 7q31 (Beery & Workman, 2012, p. 192). More than 1600 different mutations in this gene have been identified, but 70% of cystic fibrosis patients have the amino acid ΔF508 defect. This mutation occurs when the CFTR protein is missing three nucleotides at position 508 which codes for the amino acid phenylalanine essential to nutrition (Scott, 2013, p. 493).

​Cystic fibrosis is a disease that is continually affecting children and adults in the United States. This is an inherited and life-threatening disease which affects many organs in the body. According to the Center for Disease Control, there are an estimated 30,000 people affected by this disease today. There are also approximately 2,500 babies born each year with Cystic fibrosis and unfortunately there are millions of people unaware they even carry the gene for this disease.

Cystic fibrosis is a disorder that causes severe damage to the respiratory and digestive system. (Saint Francis Medical Center) It is caused by an inherited defective gene from both parents, specifically the CFTR gene, which causes the cells to overproduce mucus, digestive juices, and sweat. Normally, the fluids that are secreted are slippery and thin. However, with cystic fibrosis, the defect in the gene causes thick and sticky secretions. Instead of the secretions having lubricant properties, it clogs up tubes, passageways, and ducts, especially in the pancreas and lungs.

Cystic Fibrosis (CF) also knows as (mucoviscidosis) is a single-gene disorders. This disorder is best described as an autosomal recessive of the exocrine glands. The disorder itself can be categorized as either pus- forming or hindering airflow. The responsible gene for this pulmonary disorder has been discovered to the be on the long part of the arm of chromosome 7 (Copstead & Banasik, 2013). Major signs and symptoms of CF will be associated with the gastrointestinal and respiratory system. We are able to diagnose CF though laboratory testing such as arterial blood measurements. Treatments for CF tend to be comprehensive including specialty physicians, nutritionists, physical and respiratory therapists and genetic counselors. Medicare

More than 1,700 mutations have been identified in this gene. This mutation occurs on chromosome 7, which is inherited two copies of the defective Cystic fibrosis gene from each parent. Both parents must have at least one copy of the defective gene.

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

Cystic Fibrosis, or CF, is a genetic disease that affects children to young adults. It occurs when a child has two defective copies of the gene that causes cystic fibrosis, one from each parent. The disease primarily affects the digestive system and it also affects the respiratory system, mainly the lungs bronchi and bronchioles. Cystic fibrosis affects the cells that produce mucus and digestive juices, as it changes the protein that regulates the movement of salt in and out of cells. Which leads to people thick and sticky mucus and digestive juices, such as pancreatic juices. Whereas people who do not have CF have thin and slippery mucus and digestive juices. The severity of the disease differs from one person to the next, yet the

Cystic fibrosis (CF) is one of the most common fatal genetic diseases in Canada. This disease is the result of a mutation of the cystic fibrosis transmembrane conductance regulator (CFTR), located on chromosome seven. CF causes the body to produce thick and sticky mucus that clogs the lungs, causes infections, and blocks the release of enzymes from the pancreas. The first such defective gene was identified by research geneticist Dr. Lap-chee Tusi in 1989 with his team at the Hospital for Sick Children in Toronto. The mutated copy of the gene is recessive, so a child must inherit both copies of the defective allele from his or her parents in order to express CF. In the past, parents realized that they were carriers only when their child was

The cause of Cystic Fibrosis is mutations in a single gene on chromosome 7 that encodes for the cystic fibrosis transmembrane regulator , CFTR. The mutated CFTR gene in Cystic Fibrosis patients causes a defective chloride ion pathway. Typically, a functioning chloride transport allows chloride, which produces mucus, to exit the cells. Also, a chloride transport helps

Most people have two working copies of the gene, but only one is needed to prevent CF. CF develops when neither copes can produce a functional CFTR protein. The CFTR gene tells cells in the body to produce proteins called CFTR proteins. These proteins act as pathways inside and outside of cells, which allows water and particles such as chloride ions to flow in and out of cells. This helps maintain a balance of salt and water. In those that have CFTR gene mutations the pathways don’t work correctly and what this means for people with the gene mutation is that those pathways don’t stay open long enough for chloride ions to flow through or they don’t open as often as they should. Water and salt cannot freely flow into and out of cells, the water and salt lead to thick, sticky mucus in the lungs as well as other parts of the

Cystic Fibrosis is a defective gene that causes the mucus to become thick and build up in the lungs, pancreas, and other organs. This is a genetic disorder caused by a defective gene. People that have Cystic Fibrosis have two copies of the recessive Cystic Fibrosis gene (one from each parent). When parents are both carriers their children’s chances are 25% have Cystic Fibrosis, 50% will be a carrier, and 25% will not have Cystic Fibrosis. This causes lung infections and enzymes not to be digested so that nutrients and fats are not absorbed. People are at risk for having lung infection and it stops the absorption of food and key nutrients.

Cystic fibrosis is an inherited disease that is distinguished by the buildup of thick, sticky mucus that can harm the lungs, the digestive system and other organs in the body. Cystic fibrosis mostly affects your lungs, pancreas, liver, intestines and sex organs. It causes your mucus to be thick and stick which clogs the lungs, causing breathing problems and making it easy for bacteria to grow. Cystic fibrosis severity can vary because some people have problems from the start which means from birth and others have milder problems but won’t show till they are teens or adults.

CF involves a mutation on Chromosome 7 which affects the CF transmembrane conductance regulator (CFTR). The CFTR helps regulate channels which control sodium and chloride transport on the surface of the lungs, sinuses and other epithelium lined tissues (Wiehe & Arndt, 2010, p.246). This causes the tissues of the lungs, pancreas and other exocrine glands to become dehydrated (Pillitteri, 2014, p. 1175). The imbalance of sodium and chloride makes mucus secretions very thick which makes movement throughout the exocrine glands very

Cystic fibrosis is a progressive, debilitating, inherited autosomal recessive disorder caused by a mutation to chromosome 7 this is required for producing the transmembrane conductance regulator (CFTR) responsible for regulating the sodium and chloride levels within a cell. (NHS, 2015) If the CFTR gene is defective or absent it creates an imbalance resulting in an accumulation of mucus leading to organ damage primarily