A Study On Cystic Fibrosis

Cystic Fibrosis (CF) is an autosomal recessive genetic disease that causes thickened mucus to form in the lungs, pancreas, and other organs. It affects a specific protein called Cystic Fibrosis Transmembrane Regulator (CFTR) that controls the normal movement of sodium, chloride, and water in and out of the cells within the body. Those diagnosed with CF have either too little or abnormal CFTR. When CFTR is absent or defective, the mucus usually secreted by the cells in the pulmonary airways, pancreatic ducts, and gastrointestinal tract become thickened, leading to obstructions, frequent infection, and loss of function in the affected organs (Cystic Fibrosis Symptoms, Causes & Risk Factors, 2018). According to the Cystic Fibrosis Foundation

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

Cystic Fibrosis (CF) is a genetic disorder in which mucus glands produce abnormally thick secretions. These secretions can lead to chronic infections of the lungs and eventually lead to obstruction of the pancreas, resulting in digestive enzyme deficiency, the liver is also sometimes affected. Secretions from the sweat and salivary glands of a CF patient frequently contain abnormally high amounts of sodium and chloride. Because the body produces a high amount of salt, a sweat test is generally used to diagnose the disorder.

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.

What is Cystic Fibrosis? How does it affect people living with it? Cystic Fibrosis, also known as CF, is a life-threatening hereditary disease. It is inherited by a faulty cystic fibrosis transmembrane conductor (CFTR) gene from each parent (Kowalczyk, 2014, p. 74). This faulty gene makes a defective protein that does not work well and causes the body to produce sticky, thick mucus and very salty sweat("About CF: Causes, Signs & Symptoms of Cystic Fibrosis,"

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.

Cystic fibrosis is a hereditary disease of the secretory glands that produce mucus and sweat. This is caused by mutations on chromosome 7 and can affects the lungs, pancreas, liver, intestines, sinus and sex organs of the patients.

The type of mutation that causes Cystic Fibrosis occurs in the CFTR gene, or Cystic Fibrosis Transmembrane Conductance Regulator gene. This gene is important to the body because it helps provide channels that transport negatively charged particles (chloride ions) in and out of the cell. Chloride has an important role in the human body by how it controls the movement of water in tissue, which allows mucus to become thin. Mutations in the CFTR gene interrupts the function of the chloride channels. It makes the regulating process of the flow of chloride ions and water across the cell membranes not happen. This causes passageways to produce mucus that is very thick. The thick mucus causes these passageways to clog, and trap

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 a genetic disease that causes multiple lung infections and limits the ability to breathe over the span of a lime time. Cystic Fibrosis causes a thick buildup of mucus in the lungs, pancreas, and other organs, so Cystic Fibrosis is not only a respiratory disease but can also cause problems in the digestive system.

Cystic Fibrosis can cause problems in the reproductive system. Cystic Fibrosis patients have many more sexual reproduction problems than a healthy human. In males with CF, they are likely to be infertile because of the tube connecting the testes and the vas deferens is missing or blocked with mucus. In women with CF, pregnancy can be a lot more difficult. Pregnancy can worsen the symptoms of Cystic Fibrosis. Women with CF may also be less fertile than women without CF. Women with CF should always consult with a doctor to know all of the possible risks. In order to get CF, both partners must be a carrier because the CF gene is recessive. If someone is a carrier, they could pass it on to their own child. Cystic Fibrosis tends to run in families, since it is an inherited disease. It is also most common in Caucasians.

In the respiratory system, the mucus causes breathing difficulties, frequent respiratory infections and eventually permanent lung damage. The mucus builds up providing bacteria with a place to flourish. The most common infection comes from a bacterium called Pseudomonas aeruginosa. The body's response to P. aeruginosa includes inflammation, which causes episodes of intense breathing problems (Pseudomonas Genome Project, 1998). Normally the body will get rid of excess mucus by coughing before it's a problem but with the thick mucus involved in CF the body has a harder time to get rid of the thicker mucus. Lung disease is the usual cause of death in most patients (National Institutes of Health, 1995). In the digestive system, mucus can block the supply of enzymes used to break down food. The result of the blockage of such enzymes is malnutrition. The patient will have an excessive appetite but will not experience any weight gain. What is also evident is a failure to grow, CF was often misdiagnosed vaguely as "failure to thrive" when physicians didn't know the reason for this poor growth. Sweating is also a problem in people with CF. One of the basic defects in CF is the faulty transport of sodium and chloride (salt). People with CF lose excessive amounts of salt when they sweat. This causes the natural balance of salt in the body to be off balance, which may cause abnormal heart rhythms (National Institutes of Health, 1995).

Cystic Fibrosis is a disease that affects the body in many ways throughout the patient's life. Newborns with Cystic Fibrosis may experience delayed growth, inability to gain weight, and salty-tasting skin ("Cystic," umm.edu 1). Older patients may be infertile, have recurring pancreatitis, and respiratory problems ("Cystic," umm.edu 2). Considering that these are just symptoms involving age, the full spectrum of ailments that afflict a patient with Cystic Fibrosis is far more taxing on a patient.

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

As a result of Cystic Fibrosis, the body produces unusually sticky and thick mucus that has the following effects. It makes the lungs clog with significant exposure to lung infection which threatens life. It also causes obstruction of the pancreas and prevents natural enzymes in their role of