Research Paper: A Few Specific Genetic Disorders From Cystic Fibrosis to Down’s Syndrome and Sickle Cell Anemia, there are tens of thousands of genetic disorders, with many more to be discovered. The fascinating thing about genetic disorders is that when we were born it’s a gamble whether or not we would come into this world with a genetic disorder. Although genetic disorders are quite rare and we take being born without one as granted, there are many out there that live with these disorders everyday. My research paper will focus on the specificalities of a few genetic disorders, the disorders presented in my paper are Marfan Syndrome, Hutchinson-Gilford Progeria, Cystic Fibrosis, and Sickle Cell Anemia. My paper will encompass important specifics …show more content…
Genetic disorders can also be hereditary and can be passed down from generation to generation. There are two types of genetic disorders, single gene and multigene. Single gene focuses specifically on one gene while multigene disorders affect multiple genes and there are more of them. Moreover, single gene disorders are far more numerous than generally assumed, and as a group, they are certainly not rare (Ropers, 2010). As stated by Hans-Hilger Roper, single gene disorders are more rare than many might think. The chances of being born with a certain genetic disorder could possibly range from 1 in 500 to 1 in 10 million. While these numbers for a single genetic disorder might not be significantly high, the tens of thousands diseases bundled together adds …show more content…
Essentially, cystic fibrosis causes a lot of sticky mucus buildup in many organs, including the pancreas, lungs, and other organs. One interesting fact about Cystic Fibrosis has to do with its epidemiology, interestingly enough, the distribution and prevalence of cystic fibrosis does depend on race; white people have a higher chance of being born with Cystic fibrosis, this is believed to be because the emergence of cystic fibrosis began in the stone age in Europe (Daniel, Emanuela, Genel & Lucia, 2015). Since cystic fibrosis is a recessive autosomal disease, a person affected inherits two mutated genes from each parent as opposed to a single gene. Cystic Fibrosis is caused specifically in the “CFTR (cystic fibrosis transmembrane conductance regulator) gene” , within this gene the most common mutation is the deletion of phenylalanine at codon 508, this is the most common mutation within the 1600 known possible mutations for cystic fibrosis (Alton, Bush, & Davies, 2007). The ideal path to diagnose cystic fibrosis is through measuring sweat electrolyte levels, doctors measure the sweat levels and then check to see if the levels are abnormally high, as with Cystic fibrosis patients there is a high concentration of chloride and sodium (Alton, Bush, & Davies, 2007). After diagnosis, the main
Cystic Fibrosis causes abnormal amounts of excessively thick and sticky mucus to develop within the lungs, airways and the digestive system. Due to the thick and sticky mucus, digestive functions in the pancreas are impaired and bacteria is trapped in the lungs causing recurrent lung infections. Cystic Fibrosis Victoria (2015) states that symptoms of Cystic Fibrosis can include:
A widely accepted Caucasian disease has since changed; as cases of its existence are appearing in the South Asian Population (Orenstein, Rosenstein and Stern, 2000). First discovered in 1989, Cystic Fibrosis (CF) is a genetically predetermined condition, its presences is lifelong and highly complex, which is why many CF sufferers and families develop various mechanisms in order to adapt to the condition (Tippingemail, Scholes, Cox, 2010). Cystic Fibrosis causes the body to develop thick, sticky mucus which clogs the lungs and affects other organs in the body, mainly the pancreas. The layer of mucus if untreated develops in to a chronic infection which can be detrimental. The pancreas of a CF patient is most vulnerable, once the mucus has
Cystic fibrosis is an acquired malady described by the development of thick, sticky bodily fluid. This bodily fluid can make harm a number of the body's organs. The most widely recognized signs and indications incorporate dynamic harm to the respiratory framework and interminable digestive framework issues. The seriousness and elements of Cystic fibrosis fluctuate amongst each influenced person. The bodily fluid that greases up and secures the linings of the aviation routes, digestive framework, the regenerative framework and different organs and tissues is unusually thick and sticky in patients with Cystic fibrosis. This can obstruct the aviation routes prompting serious breathing issues and bacterial diseases in the lungs. The bacterial
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 (CF) is a common genetic disorder that affects the exocrine gland in the lungs, liver, pancreas, and intestines causing progressive disability due to multisystem failure. It is also known as “mucoviscidosis because of the mucus that builds up and blocks the respiratory system and pancreas”(Bedwell). Cystic Fibrosis affects the cells that produce mucus, sweat, and digestive juices. It causes these fluids to become thick and sticky. With them becoming so thick and sticky they can plug up tubes, duct, and passageways. Unfortunately, there is no real cure for Cystic Fibrosis. “Although, the new developments in treatment and management, the 50 percent survival rate from the 1970’s has greatly improved, allowing patients to continue to live their lives longer than ever expected in the past. New developments in prevention of exacerbations, therapy drugs and methods to preserve
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) 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.
Marfan syndrome is a genetic disorder that affects the body’s connective tissue that holds all of the body’s cells, organs and tissue together. Connective tissue plays an important role in helping the body grow and develop properly throughout a lifetime. Marfan syndrome primarily affects the proteins in the connective tissue all over the body. The primary protein that plays a role in Marfan syndrome is called fibrillin-1. A defect in the gene causes poor binding of fibrillin-1 to other proteins in the body, most commonly the protein named Transforming Growth Factor Beta, or TGF-β. The excess TGF-β protein accumulates in the lungs, heart, heart valves, and aorta. Once the structure of these organs are affected, their functioning
Health risks involving the effects of how excess mucus in the lungs causes respiratory problems and how it prevents the pancreas from releasing digestive enzymes that break down food and absorb vital nutrients will be discussed (Cystic Fibrosis Foundation, 2016). An intervention and treatment plan will be tailored to the individual and include specialized management and care of dedicated and specialized medical professionals. Therapies will be discussed and implemented that will provide techniques, equipment, and medicines that will loosen and thin mucus to clear the airways, reduce infections, and improve the absorption of vital
People with cystic fibrosis have secretions that are thick and sticky rather than thin and watery. In CF the glands that produce mucus, saliva, and intestinal fluids do not work properly. Thick mucus in the lungs interferes with the removal of dust and germs and can cause breathing problems, infections, and lung damage. The traditional first line of defense
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 (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
A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000
Cystic Fibrosis is a disorder where the exocrine glands secrete abnormally thick mucus, leading to obstruction of the pancreas and chronic infections of the lungs, which usually cause death in childhood or early adulthood. Some mildly affected patients may survive longer. Doctors can diagnose the disease by testing the patients perspiration because people with Cystic Fibrosis have high amounts of salt in their perspiration. Those with respiratory infections are treated with antibiotics, with aerosols that relieve constriction of the airways and liquefy the thick mucus, and by physical therapy to help patients cough up the obstructing secretions. Patients with pancreatic insufficiency can take pancreatic enzymes with meals.
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