...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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...Section 3 T.A. - Sheree Speckman November 15, 2011 Introduction: Cystic Fibrosis is one of the most common chronic lung diseases in children and young adults. It is an inherited deadly disorder that affects Caucasians in the United States. Cystic fibrosis of CF is a disease that is caused by a defected gene, which causes the lungs to build up with an abnormally thick and sticky fluid, or mucus. This mucus affects the lungs obstructing breathing along with also affecting the pancreas, causing poor absorption of nutrients. For my family Cystic Fibrosis is a well-known disease, because my Aunt Rae Ellen died of it back in 1962. The history of Cystic Fibrosis dates back into the mid-17th century where it was first known as a child who had become bewitched. Advances in cystic fibrosis began to pick up in the 1940s. Children with CF are normally diagnosed by the age of 2 and now can live to around the age of 40. There are many different symptoms that come along with this disease. There are different symptoms related to newborns, bowel functions, lungs, and later in life. The most common symptoms seem to be coughing or increased mucus in the lungs and salty-tasting skin. People with cystic fibrosis have mutations on the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which reduces the ability of chloride ions to travel across cell membranes. There is no way to prevent Cystic Fibrosis but there are ways to deal with it and have a quality life with it. It...
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...Cystic Fibrosis Cystic Fibrosis (CF) is a life threatening disorder that causes severe damage to lungs and digestive system. CF affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery but, in CF a defective gene causes the secretions to become thick and sticky. Instead of acting as a lubricant the secretions plug up tubes, ducts and passage ways especially in lungs and pancreas. CF is most common in white people of Northern European ancestry, but also occur in Hispanics, African Americans, and some Native Americans. (Mayo Clinic). More than 70% of patients are diagnosed by age two. The predicted median age of survival for persons with CF is in late 30’s. Symptoms of CF can be found in many ways, from very salty- tasting skin, persistant coughing at times with phlegm, frequent lung infections, wheezing, or shortness of breath, poor growth or weight gain in spite of good appetite, or frequent greasy, bulky stools or difficulty in bowl movements. Although CF requires daily care most people with condition of CF are able to attend school and work. (CFF2013) CF is diagnosed by many ways, all states screen newborns for CF using genetic testing or blood test. The blood test shows whether a newborns pancreas is working properly. Another way is sweat test, this test is most useful for diagnosing CF, a sweat test measures amount of salt in sweat. Doctors triggers sweating on small patch of skin on an arm or leg, he or she...
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...Cystic Fibrosis Cystic Fibrosis is an inherited lifelong disease that affects more than 30,000 children and young adults in the United States (Kids Health, 2007).This genetic disease which affects the transportation and clearance of electrolytes and fluids across cell membranes from exocrine glands (Yourlunghealth.org, 2004). Exocrine glands are present everywhere in your body that comes into contact with an external environment. There is no cure for cystic fibrosis (Medline Plus, 2009). Cystic Fibrosis affects the lungs, pancreas, digestive tract and reproductive tract (American Lung Association, 2008). Cystic fibrosis mainly affects the lungs and pancreas. It causes the lungs to create thick, sticky mucus blocks in the airway making it very hard for the child to breath and also very easy for them to get infections. This can lead to tissue damage and airway inflammation (Yourlunghealth.org, 2004).Eventually the chest will assume a barrel shape with increase in size in the front and back of the child (Price and Gwin, 2008).In the pancreas mucus blocks prevent enzymes that help to break down food from reaching the intestines and aiding in digestion(Genetics Home Reference, 2009).Since the digestive tract cannot digest food properly this can lead to many problems, such as poor absorption of vitamins and minerals which can ultimately lead to malnutrition (Yourlunghealth.org, 2004). Kids with cystic fibrosis have trouble gaining weight even when they have a normal diet and a healthy...
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...----------------------- Nursing Diagnosis: Ineffective airway clearance R/T increased pulmonary secretions AEB Patient has thick purulent sputum and crackles noted upon ascultation Nursing Diagnosis: Risk for infection R/T tenacious secretions and altered body defenses Medical Management: IV antibiotic treatment with Ceftazidime, CPT, and observation Medical Diagnosis: Cystic Fibrosis Signs & Symptoms: Color pale pink with bluish tinged nail beds. Patient Hx: Patient Initials: J.R. 10 year old white male. No previous injuries, has a history of CF Goal: Client will be able to remove secretions from the airway w/i 10 minutes Goal: Client will remain free of infections during my shift Goal: Client’s nutritional status will improve, and the client will exhibit normal growth within 1 week Nursing Interventions 1) The child should take deep breath and then exhale rapidly while whispering the word huff (forcing expiration) 2) Perform CPT 2 or 3 x’s a day and as needed. Determine child’s respiratory status before and after CPT. 3) Administer ordered bronchodilators or mucolytics in conjunction with any other treatments 4) Elevate head of bed, or support child in an upright position and stay with child during coughing episodes. Nursing Interventions 1) Monitor the child for s/s of respiratory infection (fever, chills, increased respirations, dyspnea, purulent secretions) 2) Advise the family to avoid exposing...
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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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...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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...Cystic Fibrosis Latisha Long HCS/245 March 26, 2012 Cathy Coyle Cystic Fibrosis In today’s society there are many diseases out there. It is to contract these diseases by coming in contact with a carrier. People who are into sharing dirty needles, having unprotected sex, or not being able to maintain a healthy and clean environment, can become infected with these transferable diseases. There are some diseases out there that you can inherit; one in particular that stands out is Cystic Fibrosis (CF). CF is a life threating disease; there are 1,000 new cases each year. With the new treatments and studies, people are living longer with CF. Before people with CF were only living into the early years of their childhood, and now they are living well past their 30s. CF is an inherited disease that affects the lungs and digestive system. A defective gene and its protein cause the body to produce an abundance of thick sticky mucus in the lungs. The production of this mucus causes the lungs to clog and can lead to life threating infections. CF can also cause the pancreas to obstruct and stop enzymes, which allows the body to absorb and breakdown food. This can cause slow growth and malnutrition in the body, and the sticky mucus can block the airway which makes it difficult to breath causing this disease to be life threatening. People with CF have shorter life expectancy, because of the way CF controls the body. The treatment for CF is improving every day...
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...mastered by birth. There’s nothing like not being able to breathe to persuade people to appreciate this simple, necessity. Cystic Fibrosis (CF) affects more than 30,000 children and adults in the United States, and 70,000 worldwide. (#7 about CF) Cystic Fibrosis is a chronic, autosomal recessive genetic disorder (#11 page 2). There is no cure for cystic fibrosis; as a matter of fact, it is a progressive disease and will only worsen over time.(#7 about CF). Everyone has a slippery substance (mucus) that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues in the body. Patients with CF have mucus that is abnormally thick, and sticky that no longer acts as a lubricant. This unhealthy mucus blocks the airways in the lungs causing permanent damage and loss of function, over time the digestive tract, mainly the pancreas is being clogged by this thick and sticky mucus, leading to malabsorption of food and nutrition in the intestine (#7 How CF may affect the body). Overall, understanding that Cystic Fibrosis is a genetic disorder with many complications, requiring constant testing to manage and treat the disease, while learning to live with CF to improve the quality of life. When it comes to cystic fibrosis, family matters, especially Mom and Dad. Every child inherits two CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) genes, one from each parent. CF occurs when a child inherits a faulty CFTR gene from each...
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...Cystic Fibrosis By Cameron Boulden Cameron Boulden BI101NB Cellular Essay Cystic Fibrosis Cystic Fibrosis is a genetic disorder passed down to children from parents through defective genes. Normally neither parent has the disease, it is the child who inherits one damaged gene from each parent, causing the infection. Some of the target areas for cystic fibrosis are, sex organs, lungs, liver, pancreas, and sinus. (Gary H. Gibbons) People living with cystic fibrosis have thick gluey mucus that builds up in their lungs and blocks the airways, ultimately making it hard for tubes to carry air in and out. Typically mucus is watery, keeping organs moisturized so they don’t dry out. (Gary H. Gibbons) Mutation of the CFTR (cystic fibrosis transmembrane conductance regulator) gene is what leads to cystic fibrosis. A change in this gene negatively affects the formation of the CFTR protein, making it unable to pass chloride ions and water in and out of cells. The lungs and pancreas are then directly...
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...Cystic Fibrosis is a chronic disease that requires lifelong treatment starting at birth. By the age of 6, most CF patients know their course of treatment but that does not mean that their fear and anxiety of their treatment is obsolete. The following are interventions that can be specifically used with CF patients. Preparation. Preparation is a primary intervention used by CCLS to educate and prepare a family and patient for procedures. As previously discussed, CF patients go through many distressing procedures, and preparation can help to minimize the stress/anxiety felt by a CF patient or parent (Thompson, 2009a). CCLS can facilitate preparation by using medical play dolls to demonstrate procedures (if the child is information-seeking),...
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...have been around for decades now. Its is not anything new. Cystic Fibrosis affects both the lungs and pancreas. Thousands, and millions of people have been diagnosed with CF worldwide. But, what are the causes and effects of Cystic Fibrosis? Cystic Fibrosis is a genetic disease that affects the lungs, pancreas, and gall bladder. CF also affects the respiratory and digestive system. The person with CF would have had to be born with a defective gene, which did not work correctly, causing thick mucus to build up in the lungs, pancreas, and gall bladder. The disease, CF was first described and named by Dorothy Anderson in 1938. Dorothy Anderson was born in Asheville, North Carolina, May 15, 1901. Dorothy had...
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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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...Cystic Fibrosis affects more than 30,000 children and adults in the United States. Cystic Fibrosis, also known as CF, is a life-threatening genetic disease that causes lung infections and limits the ability to breathe. CF also affects other organs as well. People who have CF are born with a defective gene that they must receive a copy from both parents. There are more than 1,800 known mutations of CF. Factors such as age of diagnosis, can affect an individual’s health and the course of the disease. The defective gene causes a buildup of thick and sticky mucus in the lungs, pancreas and other organs. Mucus is normally slimy and a little thicker than water. In the lungs the thick mucus buildup clogs airways and traps bacteria which leads to...
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...The Biology and Pathology of cystic fibrosis Cystic fibrosis is an inherited condition which occurs when the gene that prevents the lungs and digestive system being clogged with mucus is faulty. This is due to a chloride channel being unable to function as it should and open when there is an increase in the level of cyclic AMP. This could be due to an associated regulatory protein being unable to undergo phosphorylation. It affects the function of the exocrine glands in a person’s respiratory and digestive systems. The thick mucus produced interferes with the absorption of nutrients essential to the body by preventing the passage of digestive enzymes causing severe malnutrition. The role of CFTR in normal cells CFTR gene is responsible for creating the cystic fibrosis transmembrane conductance regulator protein; also known as CFTR protein. This protein acts as a transmembrane channel in cells that produces mucus, tears, and sweat and digestive enzymes transporting negatively charged chloride ions allowing the regulation of water in tissues. This is essential as it helps to produce the thin mucus that protects the lining of the airways and other tissues and organs....
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