Cystic Fibrosis is caused by the mutation found on chromosome 7 on the CTFR protein. CTFR proteins function as a transportation of chloride ions in cells. When this mutation occurs, the lung airway lacks ions which prevents enough water coming through making thick mucus in the lungs which can create symptoms of lung infections and cough. Challenges include continuous efforts to be sanitary due to a weak immune system. People with cystic fibrosis must maintain a nutrient dense diet because there absorption of nutrients is so poor. Everyday they must go through several medical treatments such as inhalers and medications to keep their airways open. Matt, a Philadelphia native was first diagnosed with cystic fibrosis at the age of three. Six times
Cystic Fibrosis (CF) Pathophysiology: Cystic fibrosis is a genetic disease of the secretory glands that affects the respiratory and digestive system. It mainly affects the lungs, pancreas, liver, intestines, sinuses, and reproductive organs. Cystic fibrosis affects the cells that produce sweat, mucus, and digestive fluids. Mucus becomes thick and sticky, causing build-up in the lungs and blocking airways, making it easier for bacteria to develop. This prompts repeated lung infections and can cause severe lung damage after some time.
CF is a chronic condition therefore the patients are either seeking medical attention or receiving (sometime involuntarily) a great deal of medical scrutiny and intervention during their lifetime.
Being diagnosed with a chronic illness is a life-altering event. During this time, life is not only difficult for the patient, but also for their loved ones. Families must learn to cope together and to work out the best options for the patient and the rest of the family. Although it may not be fair at times, things may need to be centered on or around the patient no matter what the circumstance. (Abbott, 2003) Sacrifices may have to be made during difficult times. Many factors are involved when dealing with chronic illnesses. Coping with chronic illnesses alter many different emotions for the patients and the loved ones. Many changes occur that are very different and difficult to get used to. (Abbott, 2003) It is not easy for someone to sympathize with you when they haven’t been in the situation themselves. No matter how many books they read or people they talk to, they cannot come close to understanding.
It is caused by mutations to the cystic fibrosis transmembrane conductance regulator(CFTR) gene. Located on human chromosome 7, the CFTR gene is made up of 250,000 DNA nucleotides.
Cystic Fibrosis (CF) is a very common, potentially life threatening condition. The disease is caused by inheritance, and affects the exocrine glands of the patient. Cystic fibrosis is found primarily among Caucasians and those of European descent. Those diagnosed with Cystic Fibrosis battle daily to perform simple tasks, such as breathing, as the mucus in their bodies thickens immensely. This mucus will potentially accumulate in the patient’s vital organs, such as the lungs, pancreas, and intestines. One can determine if he/she has cystic fibrosis by analyzing certain symptoms. Cystic Fibrosis can be diagnosed according to the symptoms the patient shows, and can be treated through specific types of treatments, such as gene therapy.
Cystic Fibrosis is an inherited disease characterized by the buildup of thick, sticky mucous that can cause severe damage to the body’s organs. Mucous is usually a slippery substance that lubricates and protects the linings of the airway, digestive system, reproductive system and other organs and tissue. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight-loss. Due to the abnormally thick mucous it can can clog airways, leading to breathing problems and bacterial infections in the lungs. Bacterial infections can lead to coughing, wheezing and inflammation. Overtime these infections can lead to permanent damage in the lungs including the formation of scar tissue, known as fibrosis and cysts in the lungs (Genetics Home Reference, 2013). The symptoms and signs of this disease vary but mostly include progressive damage to the respiratory system and chronic digestive system problems. An individuals’ lungs who are infected by cystic fibrosis have bacteria from an early stage. This bacteria can spread to the small airways, leading to the formation of bacterial micro-environments known as biofilms. Biofilms are difficult for antibodies to penetrate, therefore the bacteria repeatedly damage the lung and gradually remodel the airways, resulting in difficultly to eradicate the infection (Welsh, 1995). Cystic fibrosis patients may even have their airways chronically colonized be filamentous fungi and/or yeasts. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm are blocked by mucous and do not develop properly. As well, women may experience complications in pregnancy. Either the c...
For a baby to have Cystic Fibrosis, he/she has to have precisely two defective cystic fibrosis genes from each of the parents. Both parents must be carriers of this condition. The parents will also not show any signs of having this condition. It is a recessive condition which explains why a majority of the carriers never have a clue when they are carriers. The problem lies on chromosome seven which has the defect in those people living with this condition. Typically, people have 46 chromosomes, which pair up forming 22 pairs in every nucleus in the human body (Wicks, 2007). The remaining two chromosomes are the sex chromosomes hence the seventh chromosome is the one that gets mutated causing Cystic Fibrosis. Some of the common symptoms of Cystic Fibrosis include persistent coughing, salty-tasting skin, wheezing and shortness of breath. Additionally, there is very poor weight gain despite excessive appetite, fleshy growths in the nose and bulky, greasy
Thomson, Anne H., and Ann Harris. Cystic Fibrosis: the Facts. Oxford: Oxford UP, 2008. Print.
Cystic Fibrosis is an autosomal recessive disease created by mutations in both copies of the cystic fibrosis transmembrane conductance regulator gene or the CFTR gene. This means a person must inherit the recessive gene from both parents to have cystic fibrosis. The CFTR gene codes for an ion channel protein that conducts chloride ions across the epithelial cell membranes of the passageways of the respiratory, digestive, and reproductive systems. Mutations of the transmembrane conductance regulator gene causes malfunctions of these chloride ion channels resulting in a decrease in fluid transport of affected organs leading to cystic fibrosis. These CFTR gene malfunctions are due to a lack of production, failure to reach its site of action due
While cystic fibrosis (CF) is not a new disease, there is still a lot to learn about it. In 1938 a pathologist, Dr Dorothy Andersen, provided the first clear description of cystic fibrosis. Before this time there had been reports of people that had the symptoms of someone with CF. During the seventeenth century children with the symptoms of CF were thought to be bewitched and their life expectancy was very short. Dr Dorothy Andersen gave this disease its name because cystic fibrosis refers to the scarring that is found on the pancreas. People with CF also have associated diseases like salt-loss syndrome, obstructive azoospermia, and gastrointestinal abnormalities. CF is inherited from one’s parents, making it a genetic disease. CF is caused by mutations in a certain gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This gene was first discovered in 1989 on chromosome pair 7. Cystic fibrosis is a recessive disease meaning both parents have to be a carrier. Whenever two CF carriers have a child together, there’s a 1 in 4 chance that their child will inherit the CF mutation. Although CF produces coughing it cannot be transmitted any other way than hereditary.
In cystic fibrosis, a genetical condition that has a high population of young patients with multiple medical treatment requirements, it is of clinical importance to ensure compliance to their treatments in order to avoid a premature death. Behavioural economics can help here by addressing how we improve motivation with and perceived value of medical treatments – to improve overall patient compliance. In treatment compliance with children, up to 70% of patients with chronic illnesses have poor adherence (Haynes RB, 2002). Poor adherence to cystic fibrosis therapies may result in increased disease symptoms, decrease physical functioning, increased time in hospital, morbidity rates and mortality, as such an increased healthcare costs (Vibeke Bregnballe, 2011). Therefore the more compliant the more cost-effective treatments become, and the healthier the patients stays. It is also important to note that for every drug skipped represents a financial loss. Capgemini group reported in 2013 that the worldwide cost of non-adherence to be estimated at 564 billion dollars. So, if we get childre...
“Cystic Fibrosis in Adults: From Researcher to Practitioner” written by Gregory P. Marelich and Carroll E. Cross discusses the in depth details of cystic fibrosis. Gregory Marelich is a Doctor of Medicine (M.D.) and has certifications in internal medicine, pulmonary disease, and critical care medicine. Carroll Cross is a Doctor of Medicine and a Bachelor of Arts (B.A.). She is certified in pulmonary disease and internal medicine. Both authors have experience working in multiple facilities in California and have a sufficient amount of knowledge to write articles pertaining to pulmonary or medical conditions. Throughout the article they exhibit their knowledge and understanding for the lung disease cystic fibrosis.
Cystic fibrosis is the most common fatal genetic disease affecting Canadian children and young adults.
Cystic Fibrosis (CF) is the most common life threatening genetic condition in Australia. CF affects many of the body’s systems, including lungs and digestion. Improved medication and treatments have seen life expectancy extend considerably. (Cystic Fibrosis Queensland, 2014)
One of the most chronic lung diseases which is becoming more and more apparent in typical young children around the world, though mostly Europe, and is somewhat apparent in adults is the genetic disease, Cystic Fibrosis (CF). The name itself comes from the genetically mutated protein that is known as Cystic Fibrosis trans-membrane conductance regulator (CFTR). The disease was first introduced and thoroughly explained by Dr. Dorothy Andersen in 1938. She brilliantly conveyed the negatives of the disease and explained how the disease works. This disease may not seem intimidating but it can suddenly cause a shortness of breath and can be a life threatening disease in a short period of time. Understanding the disease more and more and having more knowledge about can definitely help you, especially if you are subjective to it.