...Cystic Fibrosis Cystic fibrosis is a recessive, genetic illness, which affects the work of lungs, liver, intestine, and pancreas. This disease causes malfunctioning of the chloride and sodium transportation across the body and results in the thick and viscous secretions. Nowadays, cystic fibrosis affects thousands of people, especially in Europe and the US. Although, cystic fibrosis is a rare disease, it is quickly spreading all over the world and leads to the general shortage of life. In fact, it is a serious disease, which calls for an immediate diagnosis and appropriate treatment. History of the Disease Cystic fibrosis was discovered in the first half of the 20th century. However, without doubts, it emerged thousands of years before. The researchers surmise that cystic fibrosis appeared about 3000 BC, as a result of migration and gene mutation. During the 16-17th centuries, the salty taste of the skin (which is the symptom of cystic fibrosis) was considered a sign of bewitchment. Dr. Dorothy Andersen was the very first to describe the peculiarities and main characteristics of this disease. Before that investigation, the humanity had already known some facts and elements of cystic fibrosis. The reason for such late examination of this disease can be explained with the lack of required tools and means. Even nowadays, there are still many researches, aiming at providing objective information about cystic fibrosis and applying to the methods of the newborn and antenatal...
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...“Cystic Fibrosis” Pediatric Case Study March 27, 2013 Kasie Wilson The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Cystic fibrosis (CF) is a major cause of serious chronic lung disease in children. It is an inherited recessive trait, in which both parents carry a gene for the disease. Children with cystic fibrosis have a defect in chromosome number seven, which is thought to have developed many years ago as a protective response of the human body against cholera (just a theory). The disease causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body such as the pancreas, liver, and intestine. It also causes a loss of electrolytes in sweat because of an abnormal chloride movement. About one thousand new cases of cystic fibrosis are diagnosed each year and more than seventy percent of these patients are diagnosed by the age of two. Cystic fibrosis is considered a multisystem disease because of the following effects of the thick, viscid secretions. In the respiratory system, small and large airways are obstructed, which then results in difficulty breathing. The accumulation and stasis of the secretions create a medium of growth for organisms that will cause repeated respiratory infections. The thick secretions in the lungs and response of tissues to infections cause hypoxia that can lead to heart...
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...Cystic fibrosis, is also known as mucoviscidosis, is a genetic disorder that affects mostly the lungs but also the pancreas, liver, kidneys, and intestine. Knowing that Cystic fibrosis is a disease that can cause a lot of trouble in your body if untreated. Cystic fibrosis has three main aspects is it important to know. The first is how Cystic fibrosis is caused in the human body. Second, is how the disease affects the human body. Last, is how do you treat this disease that has entered the human body. Cystic fibrosis is a disease that children are born with caused by a gene mutation. Cystic fibrosis is a recessive gene; which means to have this disease the child has to receive a copy from each of its parents. Gene mutation affects the body...
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...Matto Massaad 1/19/16 AP Bio Mr. Duehr Cystic Fibrosis In 2010, two sisters, diagnosed with cystic fibrosis, went on America’s Got Talent to show the world that they would not let this horrible disease drag them down. People said from the start, according to Christina and Ali, “they would never be able to sing.” They were from a family of four children who were all diagnosed with cystic fibrosis. Cystic fibrosis is a single gene disorder. This disease is still very life threatening even though science, medicine, and technology have come a long way since the mid 20th century. In the past fifty years, cystic fibrosis patients have gone from dying as infants to having their average life expectancy be from 3540 years old, (Kaneshiro.) Cystic fibrosis is caused by a mutation of the CFTR gene. This gene makes a protein called CFTR or (cystic fibrosis transmembrane regulator.) This protein balances the salt and water content on epithelial surfaces by providing a channel for the movement of chloride ions in and out of cells, (Genetics and Nutrition.) The CFTR protein can be altered if there is a fatal mutation in the CF gene. Although there are so many different mutations of this gene, the most common is found in almost ninety percent of all cystic fibrosis patients. This mutation is just a simple deletion of three nucleotides. These three nucleotides were to create the amino acid phenylalanine, but with CF, that is never made. The CF protein never makes it to the cell ...
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...condition and 1 recessive inherited condition. The disease I have chosen are cystic fibrosis which is a recessive disease and Huntington’s disease which is a dominant disease. I will assess the relationship between them both and discuss the impact on individuals of genotypes resulting in development delay of normal body functioning. Also, I will evaluate the support available for individuals with the two chosen conditions. The dominant inherited condition I have chosen is Huntington’s disease. This is a disease that damages certain nerve cells in the brain. This brain damage becomes progressively worse over time and will have an effect on movement, cognition (perception, awareness, thoughtful, judgement) along with behaviour and conduct. Early functions normally include personality changes, mood swings, fidgety moves, becoming easily irritated along with altered behaviour, despite the fact that these are generally frequently unnoticed along with due to something different....
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...BI 112 Genetic Paper Cystic Fibrosis Cystic fibrosis is a disease that can be genetically passed down to offspring. According to the cystic fibrosis foundation’s website, “it affects the lungs and digestive system of about 30,000 children and adults in the United States,” and “70,000 worldwide” (www.cff.org). The online website lab tests online, records that cystic fibrosis “is a relatively common disease caused by mutations in the gene located on chromosome 7” (www.labtestsonline.org). This chromosome contains a protein called cystic fibrosis transmembrane regulator or CFTR and a mutation in this gene “lead to absent or defective CFTR production causing cystic fibrosis (www.labtestsonline.org). There are some very specific signs and symptoms of this disease. Some of the most common symptoms are: “very salty tasting skin, persistent coughing at times with phlegm, frequent lung infections, wheezing or shortness of breath, poor growth/weight gain in spite of a good appetite, and frequent bulky tools or difficulty in bowel movements” (www.cff.org). It is also reported by the American lung association’s website that it “causes thick, sticky mucus to form in the lungs, pancreas and other organs. In the lungs, this mucus blocks the airways, causing lung damage and making it hard to breathe. In the pancreas, it clogs the pathways leading to the digestive system, interfering with proper digestion” (www.lungusa.org). It is important to be genetically tested to see if there...
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...life can be affected by ill-health. In this assignment I will be discussing how cystic fibrosis and obesity affects the health and lifestyle of the person with the illnesses. What is cystic fibrosis? Cystic fibrosis is an example of ill health, as it is the UK’s most common, life threatening disorder. It is a genetic disorder that is caused by ‘an inherited disease caused by a faulty gene. In the UK, 2.3 million people carry the faulty gene and when two people that are carriers of the gene, there is a 1 in 4 chance in every pregnancy that their child will be born with cystic fibrosis. This gene controls the movement of salt and water in and out of your cells, so the lungs and digestive system become clogged with mucus, making it hard to breathe and digest food.’ This faulty gene causes a variety of symptoms for the person with the disorder, some of these symptoms include: a persistent cough, poor weight gain and recurring chest and lung infections. The cells most seriously affected are the lung cells, this is because the over production of mucus clogs the airways of the lungs and increases the risk of infection due to the amount of bacteria that can reproduce which may lead to lung and heart failure. Cystic fibrosis is a disorder that is getting more treatable over the years and with newfound technology and medication has meant that ’life expectancy for children born and diagnosed with cystic fibrosis (CF) in 2010 is 37 years for females and 40 years for males’ Lewis, R (2014)...
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...Course: Date: Introduction Cystic fibrosis (CF) refers to an inherited problem of the mucus glands. Mucus is a substance that is usually slippery secreted by the body to cover the digestive system, lungs, and reproductive system as well as other tissues and organs. CF makes the body to release excessive mucus that is extremely thick and sticky, which can cause various health issues. Among these health issues are difficulty in coughing, chest repetitive infections, lengthy diarrhea and deprived gain of weight. If the condition is not treated it would cause extensive complications, which may lead to early death. Nevertheless, if the condition is identified early and the child is exposed to proper treatment, the symptoms of CF are controllable and children may live longer. Different authors have different views on CF as they all try to get into a conclusion on how the health condition should be resolved. Since CF is inherited, the defective gene must be passed from both the parents to the child in order to acquire the disease else if only a faulty gene is inherited, the child becomes a carrier. Actually carries of cystic fibrosis do not have the disease but can pass to other individuals. There are proposals on improvements as well as challenges in executing the CF treatment process. The paper discusses the proposal below. Literature Review According to Norm Brown (2009), the gene responsible for CF was identified and it was named Cystic Fibrosis Trans-membrane Conductance...
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...Cystic fibrosis, also known as mucoviscidosis, is an autosomal recessive disorder.1,2,22 It is the most common inherited disease in the Caucasian population affecting 1 in 3000 children in Western Europe.3 It is a multiorgan disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which is located on the long arm of chromosome 7 and encodes for a special chloride ion channel.4,5 The vast majority of mutations involve three or fewer nucleotides and result in primarily amino acid substitutions, frameshifts, splice site, or nonsense mutations.11 Of more than 800 identified CFTR mutations, the 3 base pair deletion of phenylalanine at position 508 is found worldwide in 70% of cystic fibrosis sufferers, therefore making F508 CFTR the most common deadly mutant in the Caucasian populations.6 Since cystic fibrosis has a genetic origin the opportunity to treat by replacing the defective gene with a normal healthy gene (gene therapy) offers a ‘novel therapeutic approach’ for sufferers.7 The estimated survival age of cystic fibrosis sufferers is 33.4 years (Fig 1). In this essay we will discuss the aetiology and symptoms of cystic fibrosis and the current available treatments, with particular emphasis on gene therapy and furanones, which prevent the build up of bacterial biofilms and thus reduce lung infection. Mutations in the CF gene can disrupt CFTR function within epithelial cells in different ways, ranging from complete loss...
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...may include postural drainage and percussion, as well as special equipment, such as a vest * Inhaled medications, which may require a nebulizer. Nebulizers vary, so you should talk to your CF Care Team about which is FDA approved for use with your medicine. Indication and Usage Daily administration of Pulmozyme® (dornase alfa) Inhalation Solution along with standard therapies is indicated in the management of cystic fibrosis patients to improve lung function. In patients with a forced vital capacity (volume of air exhaled with maximum effort and speed) greater than or equal to 40% of predicted, daily administration of Pulmozyme has also been shown to reduce the risk of respiratory tract infections requiring the administration of injectable antibiotics. In our pivotal study, safety and efficacy of daily administration has not been studied in patients beyond 12 months. Important Safety Information * Pulmozyme should not be used in patients who are allergic to any of its ingredients * Pulmozyme should be used along with standard therapies for cystic fibrosis * When...
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...Current research on cystic fibrosis gene therapy suggests that it will become an important treatment strategy INTRODUCTION: Cystic fibrosis is an autosomal recessive disease, triggered by mutation in the gene CFTR i.e. cystic fibrosis transmembrane conductance regulator. CFTR is an ABC gene i-e ATP-binding cassette (transporter) gene that encodes a protein. This CFTR protein is a chloride ion channel protein that controls the flow of chloride ions and water across the cells. This movement is important in generating sweat, digestive juices, as well as mucus secretion and its clearance. This CFTR gene is located at q 31.2 locus of chromosome 7 long arm. The most common mutation in cystic fibrosis is removal of three nucleotides that results in loss of a nucleotide phenylalanine (F) at 508th position at the long arm of chromosome 7. Depending upon the protein expression and function six classes of mutations have been identified in cystic fibrosis: CLASS I: these are non-sense mutations that hinder the protein synthesis as they have premature stop codons. CLASS II: these mutations are most commonly found in patients of cystic fibrosis that include the deletions of phenylalanine 508th del. As a result of this deletion, protein folding is reduced and as a result its transport to cell surface is impaired and it undergoes degradation within the cellular lysosomes. CLASS III: in these mutations, proteins are normally present but are not expressed to a level that responds to intracellular...
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...Cystic Fibrosis: A Personal Impact Carrie Minton NUR/427 June 8th, 2013 Dr. Angela Lowery Cystic Fibrosis: A Personal Impact Isabel and Anabel Stenzel, identical twins, were born with the deadly chronic disease, Cystic Fibrosis. This disease has had a huge impact on their everyday quality of life as well as their family and friends. It is a daily fight and struggle. Not giving up and continuing to be proactive about caring for themselves is key to survival. At birth the doctor said they had 10 years to live. They are now 40 years old and have accomplished so much in their lives despite the difficulties of living with Cystic Fibrosis. Cystic Fibrosis: The science Cystic Fibrosis is a very progressive and chronic lung disease. Some people have it worse than others. Some are not diagnosed with it until later in life. It is more commonly diagnosed in the Caucasian population. Isabel and Anabel are half Japanese, from their mother, and half German, from their father. So it was very rare that their mother was a carrier of the recessive gene. Since their father was also a carrier, it lead to them acquiring Cystic Fibrosis. The most common autosomal recessive genetic disorder among Caucasians is Cystic Fibrosis (Scott, 2013). Nearly 5% of the population in the United States carries the defective CFTR gene (Scott, 2013). There is still a large number of the population that remain asymptomatic. Cystic Fibrosis has an effect on the exocrine glands, also known as the secretory...
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...Adult Client with Childhood Disease-Cystic Fibrosis Candace Tiley GCU RN-BSN Health Assessment NRS-434V Kathy Karlberg August 01, 2013 Adult Client with Childhood Disease-Cystic Fibrosis CLC GROUP ASSIGNMENT-SPEAKER NOTES Candace Tiley #1- A clinical description and definition of the disease Definition: Cystic Fibrosis is one of the major life-threatening disorders that affect vital organs such as the lungs, pancreas, liver, and intestines. It is a genetic disorder of the exocrine glands, also called the secretory glands, which are the glands that produce and secrete mucus and sweat. CF affects all races but primarily affects Caucasians of European descent. This disease affects about 30,000 people in the United States and 70,000 people worldwide. In the U.S. nearly 5% of the population carries the defective CFTR gene. There are a high number of asymptomatic carriers. (Scott, 2013) Cystic Fibrosis causes severe damages to cells of the body that produce mucus, sweat, and digestive juices. Under normal conditions, these secretions from the body are usually thin and slippery. However, in people diagnosed with CF, the defective gene causes the secretions to become thicker and stickier. This leads to a plugging up of tubes, ducts and passageways, particularly in the lungs, sinuses, pancreas, intestines, hepato-biliary tree, and the vas deferens. (Hopkin, 2009) Cystic Fibrosis is characterized by abnormal movement of chloride and sodium ions across the epithelial...
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...Title: Outline the benefits of an Exercise programme for people with Cystic Fibrosis and discuss the factors which may influence Exercise compliance. Introduction Cystic fibrosis (CF) is one of the most common and life limiting autosmal recessively inherited diseases in the world with an estimated occurrence in newborns of 1 per 3000 per annum (Walters, 2007). The majority of people with this disease are diagnosed during their first year of life with many countries now employing newborn screening programs. The basic mechanism of the disease consists of manifestation as pancreatic insufficiency leading to malabsorbtion and failure to thrive and impaired mucocillary clearance leading to reoccurring chest infections and bronchiestasis (Savage et al. 2011). With the recent advances in treatment of CF which have resulted in increased life span and survival rates, individuals can now expect to live into their fourth decade. Stats from the UK show that CF affects over 9000 people with 4000 under the age of 16 (Williams and Stevens, 2013). Irish stats show a similar pattern where 1200 individuals suffer from CF with 45% being under the age of 18. According to the CF trust (2010) the primary cause of death in individuals with CF is respiratory failure. CF is a progressive respiratory disease which results in an abnormal ventilator response to exercise for individuals with CF (Bradley and Moran, 2008). This contributes to dyspnoea which is a shortness of breath and is a major limiting...
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...mutation can be caused by deletion of bases in DNA, insertion of bases, substitution when the DNA is first ‘unzipped’ – this results in the wrong mRNA codon being translated - mutations can also be chromosomal (An example of this would be Down’s syndrome). Because one of the bases in the mRNA strand has altered due to deletion or insertion etc, it no longer matches the triple codon (tRNA is the small transfer RNA that brings the amino acid to the protein that’s being formed), this alters the amino acid formed and in turn can alter the protein function that’s being made. The alteration in the protein makes it have a different function, which could either be for the good or something more serious like Cystic Fibrosis. Cystic Fibrosis (CF) This is a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator protein (CFTR Protein) which affects 1 in 2500 live births in the UK. There is...
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