Cystic Fibrosis Case Study

Cystic fibrosis is an existence restricting autosomal recessive disorder that influences 70,000 people around the world. The condition is known to affect principally those of European descent, though cystic fibrosis has been accounted for in all races and ethnicities. [12] Unusually viscous emissions in the airway of the lungs and in ducts of the pancreas in people with cystic fibrosis cause hindrances that prompt aggravation, tissue harm and destruction of both organ systems. Studies show that Cystic Fibrosis is more prominent in White Americans than African Americans, and Hispanics. A large number of Americans are carriers of this mutated Cystic Fibrosis gene, however if an individual is affected they must acquire two of these genes keeping

CF happens because two parents have a defect in the CF transmembrane conductor regulator (CFTR) gene. If a child has only one parent that has a

Cystic Fibrosis is a genetic disease that causes the body’s lungs to generate a different type of mucus than a non-infected body would. The contaminated lungs will produce mucus that is thick and adhesive which clogs the lungs and leads to an unpleasant and abhorrent lung infection. CF also interferes with the pancreas, disallowing the digestive enzymes from breaking down and absorbing food in the intestine. This can result in low nutrition, feeble growth, excessive sweat production, difficulties in breathing, and sometimes lung disease. When producing extra sweat and mucus, the body loses salt. If too much salt is lost, it can cause abnormal heart rhythms, disturbance of minerals in the blood, and perhaps, shock.

According to the Cystic Fibrosis Foundation (CFF), their 2012 patient registry polling indicated cystic fibrosis as a genetic disease affecting over 30,000

Cystic fibrosis is an inherited disorder that affects many functions of the body: breathing, digestion, and reproduction. The lifelong illness usually gets more severe with age and can affect both males and female equally. The symptoms and severity of cystic fibrosis differ from person to person. Most patients have both respiratory and digestive problems, while others only have respiratory problems. Intelligence is not affected in people with CF.

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).

The CF gene is found in Chromosome 7. Mutations in the CFTR gene cause cystic fibrosis. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. The official name of this gene is “cystic fibrosis transmembrane conductance regulator “or

There are many possibilities of how your child could have gotten Cystic Fibrosis. I have attached a chart below known as a pedigree that will explain how your child was affected. There are two ways of getting CF. Cystic Fibrosis can be gotten if the child inherits two copies of CFTR (Cystic fibrosis transmembrane conductance regulator) gene that contain mutation. Each of these have to be one copy from each of the

Cystic fibrosis causes mucus to become extremely thick and sticky. The disease found in the lungs, pancreas, liver, intestines, and more but mostly affects the lungs. The disease is a recessive trait that is passed down through generations of caucasians, but is not contagious. The protein that is affected is CFTR (or cystic fibrosis transmembrane conductance regulator) which controls the flow of salts and fluids in and out of cells. The chromosome that is affected is chromosome 7. Even if one of the parents does not have the disease they could be a carrier and pass on the gene to their child. Usually, people with this disease have germs that are not affected by

Cystic Fibrosis (CF) is the most common fatal genetic disease in the United States today. CF is an autosomal recessive disease that occurs approximately one out of 3,300 live births (Cystic Fibrosis Foundation, 1998). Autosomal means that the gene for CF is not carried on the sex chromosomes and males and females are both afflicted

Cystic fibrosis is caused by a mutated gene. CF is an autosomal recessive trait, meaning that in order for an individual to have it, both parents must be carriers of the mutated gene. There are about 1,700 known mutations of cystic fibrosis, meaning that the condition is unique to each individual. This causes treatments of cystic fibrosis to vary, both in frequency between treatments and in the intensity of each treatment.

Cystic fibrosis is a recessive genetic disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This mutation causes problems with the apical membrane CFTR protein which when working to its full potential regulates the sodium and chloride intake in epithelial cells (Eitan Kerem et al. 2005). It affects about 70,000 people in the world and in the UK it is said to affect 1 in every 2,500 children. The disease causes the apical membrane CFTR protein to not be able to transport the sodium and chloride it needs to, this can have a huge effect on multiple organ systems, mainly the respiratory system. The most common clinical problems Cystic Fibrosis causes are pulmonary damage

Cystic fibrosis is an autosomal recessive disorder located on the seventh chromosome. It is a commonly inherited disorder and is seen in children. It is most commonly seen 1 in every 3419 live births to parents who are from white, European descent (VanMeter, Hubert, 2014). Cystic fibrosis is an obstructive lung disease. Thick, sticky mucous obstructs airflow in the bronchioles and small bronchi, causing air to be trapped leading to atelectasis and damage to the bronchiole walls (VanMeter, Hubert, 2014). The abnormally thick secretions, such as tenacious mucus, are caused by several mutations to the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. The excessive amounts of mucus in the lungs obstruct the airways leading to fibrosis

Cystic fibrosis is an autosomal recessive disease that occurs approximately one out of 3, 300 live births(Cystic Fibrosis Foundation, 1998). Autosomal means that the gene for CF is not carried on the sex chromosomes and males and females are both afflicted by this disease. Recessive inheritance is when both parents carry the gene for the disease in their DNA by they themselves do not show any evidence of the disease. Both the mother and the father carry one normal gene and one gene that is affected. In order for a child to have Cystic Fibrosis they must inherit two normal affected genes, one from each parent. Chromosomes are made up of DNA (deoxyribonucleic acid), which is then made up of genes, that are the building blocks of life called base pair. The specific gene responsible for Cystic Fibrosis was identified in 1989 on human chromosome 7 (Pseudomonas Genome Project,

Cystic Fibrosis is caused by a genetic defect in Chromosome 7. Chromosome 7 encodes the cystic fibrosis transmembrane conductance regulator, also known as CFTR. There are over 1,000 mutations of this gene causing cystic fibrosis, with each mutation manifesting as a different variation of disease onset and clinical presentation. The most common mutation is the loss of phenylalanine residue at deltaF508. The abnormal functioning CFTR causes impaired chloride transport and more viscous secretions. The defect causes dehydrated secretions in the respiratory tract and gastrointestinal tract. Being dehydrated, these secretions become more difficult to move throughout the body. Along with impaired