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 …show more content…
There are thousands of mutations that have been discovered in the CFTR gene in people with cystic fibrosis. The most common mutation is delta F508, which is one deleted amino acid at position 508 of the protein. This mutation results in the chloride channels breaking down after they are made, meaning that chloride ions are never properly transported, which essentially impairs the movement of water across membranes. The protein encoded by the CFTR gene, cystic fibrosis transmembrane conductance regulator, helps regulate water movement and the production of thin mucus that lubricates the epithelial walls of some organs in the body. Delta F508 mutation causes the production of thick and sticky mucus, blocking airways, tracts and …show more content…
People with cystic fibrosis can use a high-frequency chest wall oscillation vest as a way to mechanically clear airways, and antibiotics are the main way to treat the many infections that come with Cystic fibrosis. Antibiotics are also a problem within itself because the body can become immune or use to them after prolonged usage. However, even with these methods, cystic fibrosis is ultimately fatal without a transplant. The need for better treatment is high. One suggestion is gene therapy. Gene therapy targets the gene mutations directly rather than just treat the symptoms of the
Membranes are involved in Cystic Fibrosis when it comes to the genes that are prone to the disease. In a regular functioning body, the CFTR gene helps make the channel that transports charged chloride ions into and out of cell membranes. In a body with cystic fibrosis, the chloride channels don’t function properly, and do not allow chloride ions into and out of the cell membranes, causing the thick mucus (as mentioned earlier) to be produced. The concentration gradients are involved when it comes to moving these molecules and ions across the cell membranes with passive and active transport. Passive transport substances move down concentration gradients while active transport substances move against their concentration gradients (keep in mind this is in a healthy functioning body). With cystic fibrosis, there is a defect in the transport protein, which does not move through the concentration gradient
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.
Sequeiros, IM, Jarad, NA. 2009. Home intravenous antibiotic treatment for acute pulmonary exacerbations in cystic fibrosis-Is it good for the patient?. Annals of Thoracic Medicine 4(3), pp. 111-114.
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.
In the Shadow of Illness, the book describes different experiences of families who have or had children with cystic fibrosis (CF). CF is an inherited disease that is passed on from the mother or father who is a carrier, but doesn’t have the condition. Doctors have figured that in this scenario, the parents are likely to have a child with CF. Individuals with CF have to take Cotazymes to help the pancreas digest food. If the person does not take these enzymes, the food goes straight through them as diarrhea. Also, the person’s lungs are affected by a thick mucus that must be removed or thinned before it clogs. Doctors recommend the patient to perform daily breathing exercises that prevent the mucus from thickening; for example, swimming
Modern molecular genetics has given hopes and heartaches to thousands of people around the world. These people are looking towards gene therapy for an answer to their questions. To some people such as NIH director Harold Varmus the answer is a better understanding of basic genetic research and to others the answer is a cure, a hope, that their lethal disease will someday be cured. This essay touches on the background of gene therapy for Cystic Fibrosis (CF), current social and ethical issues facing gene therapy for CF, and some thoughts on the importance of this controversial subject.
Cystic Fibrosis is a lifelong disease that has a harsh negative affect on many vital organs, some of which include the lungs, pancreas, and intestines. This disease causes the mucus, tears, and sweat of the patient to be considerably thick. However, the thickness of such mucus is determined by the severity of the patient’s Cystic Fibrosis. This mucus affects the breathing of those diagnosed with cystic fibrosis, and many have reported an additional trouble with digesting food. One is most likely to have Cystic Fibrosis if their families have a history of such a disease. Therefore, Cystic Fibrosis is a genetic disease that is recessively passed down to proceeding generations. Additionally, this disease most commonly affects those who are Caucasian or of European descent.
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 reached this organ, it halts digestive enzymes from reaching the intestines which aid in absorbing food, therefore affecting nearby organs (Davies, Alton, and Bush, 2007). Currently there are 9,000 people diagnosed with CF in England (CF Trust, 2011). It has been estimated that there is 1 in 10,000 South Asian sufferers in the UK alone (Kabra, Kabra, Lodha, Ghosh, Kapil et al, 2003; McCormick, Green, Mehta, 2002). Prior research-based literature that focuses on people with CF and their families covers some of the experience of living with the disease but displays some major gaps; none has specifically targeted South Asian individuals. Cross culturally this is also the case; the limited availability of CF research has influenced scientists to devote more attention in this area. For instance, information in regards to CF in Egypt is very limited; firstly CF has been believed to occur infrequently as there has not been a sufficient amount of known CF cases. Naguib, Schrijver, Gardner, Pique, Doss, Ze...
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
gene. Millions of Americans carry the Cystic Fibrosis gene, but will never have any symptoms. They
Physical Therapy and exercise is used to help reduce any breathing difficulties the patient may have. Supplements of vitamins are given to patients so they will not suffer from malnutrition. Other medications are also prescribed to patients to thin mucus. In highly developed Cystic Fibrosis, a lung transplant may be an option.
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, also known as CF, affects over 30,000 children and adults world-wide. CF is a disease in the lungs and digestive system and is still incurable today. It is a disease that causes thick, abnormal mucus in the lungs, nasal polyps, fatigue, and can also damage organs in a person’s body. According to www.cff.org/aboutcf, over 70% of CF patients are diagnosed at two years of age. Cystic fibrosis is one of the most life-threatening diseases in the United States and is very common amongst chronic diseases. Cystic fibrosis is most commonly diagnosed in young children and sometimes adults.
The ARNP would concentrate her assessment on the respiratory system as Brian presented with a fever and stuffy nose, the condition of cystic fibrosis causes mucus to be thick and sticky which results in narrowing of the airways and hence reduction in air flow thereby affecting oxygenation(Book ref).From the scenario Brian’s height and weight is under the 10th percentile on the growth chart which means that his digestive system has also been affected, hence the physical assessment would be focused on the respiratory, digestive and the immune system.Cystic fibrosis affects the digestive system by blocking the flow of pancreatic enzymes due to obstruction of the thicken pancreatic secretions which blocks the ducts. This results in malabsorption