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cystic fibrosis pathogensis
cystic fibrosis pathogensis
cystic fibrosis pathogensis
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Like the world around us the medical field is always changing. It is always pushing forward, trying to understand mysteries of the human body that have boggled researchers for decades. What confuses scientists more, are the organisms or conditions that create these abnormalities that can send the human body into a downward spiral. Disease is something that has affected human civilization since the dawn of time. It can either be chronic or acute, but in either case it has the potential to bring havoc to the human body systems that can lead to devastating consequences. Generally there are two main types of diseases, ones caused by invading pathogens and those which are hereditary. One hereditary disease that can be particularly tragic is cystic fibrosis. Cystic fibrosis is a particularly fatal disease, it affects primarily young children and adolescents but a diagnosis later in life is not unheard of. “It is an inherited disease of the secretary glands” ("What is cystic," 2011) that can affect many of the body's organs, most characteristically the lungs. One of the reasons CF (the short form for cystic fibrosis) is so life-threatening is because of the amount of organs it can affect inside the body. It can affect organs such as the “pancreas, liver, intestines, sinuses and sex organs” ("www.medincinet.com," 1996). Mucus lines many body tissues, it naturally is a “thin and slippery” (Mayo Clinic Staff, 2010) secretion but in a client with cystic fibrosis these secretions “become thick and sticky. [Reference Figure 1.] Instead of acting as a lubricant the secretions plug up tubes, ducts and passageways especially in the pancreas” (Mayo Clinic Staff, 2010). These blockages in the pancreas mean that “digestive enzymes that your pancre... ... middle of paper ... ...annel_condition_info_details.asp?Cff.org. (2010, April 12). Retrieved from http://www.cff.org/treatments/Therapies/ channel_id=2048&relation_id=36867&disease_id=41&page_no=2 www.medincinet.com. (1996). Retrieved from http://www.medicinenet.com/cystic_fibrosis/article.htm www.medincinet.com. (2011). Retrieved from http://www.medicinenet.com/the_digestive_system/glossary.htm Schriber, A. (2009, October 14). Medlineplus. Retrieved from http://www.nlm.nih.gov/medlineplus/ency/article/003853.htm Sheridan, C. (2011, 06 07). First cystic fibrosis drug advances towards approval. Retrieved from http://www.nature.com/nbt/journal/v29/n6/full/nbt0611-465.html What is cystic fibrosis. (2011, June 01). Retrieved from http://www.nhlbi.nih.gov/health/health-topics/topics/cf/ www.medincinet.com. (1996). Retrieved from http://www.medicinenet.com/cystic_fibrosis/article.htm
In any case, it might bring about different complications in the reproductive and musculoskeletal. For example, infertility in men and women and low bone density. Patients with cystic fibrosis frequently have lung diseases caused by germs that don't react to anti-biotics. Infections, for example, sinusitis, bronchitis, and pneumonia add to long term lung damage. Cystic Fibrosis also causes damage to the pancreas because the thick mucus blocks tubes, and ducts; preventing enzymes to reach the intestines. When this happens, the digestive system is unable to ingest fundamental fats and proteins causing diarrhea, serious constipation, and intestinal blockage. As CF worsens, more serious manifestations rise like bronchiectasis, pancreatitis, hepatopathy, and
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.
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
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.
Chronic illness can be very difficult to manage. Cystic fibrosis is the most common life-limiting autosomal (not sex-linked) recessive disease among Caucasian heritage. Although technically a rare disease, it is ranked as one of the most wide spread life-shortening genetic diseases. It is most common among nations in the Western world minus the exception of Finland but it is equally diagnosed between male and female.
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
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.
There are recurrent episodes of overeating in which large amounts of food are consumed in a short period of time.
Cystic Fibrosis is an autosomal recessive genetic disease affecting the exocrine glands and progressively gets worse over time. The production of unusually thick mucus is formed causing blockages of the pancreatic ducts, intestines, and bronchi. Though it majorly affects the respiratory and digestive systems, sweat glands and the reproductive system are affected too. “The result is malnutrition, poor growth, numerous respiratory infections and breathing difficulties” (Interactive Health Tutorials: Medline Plus). Cystic Fibrosis affects almost 30,000 Americans: it affects males and females equally. There are another 12,000 people who carry the Cystic Fibrosis gene, and can pass it to offspring if they reproduce with someone with a like gene. Usually, a person is diagnosed with the disease as an infant. The life expectancy for a person with Cystic Fibrosis is, on average, thirty years. There is no cure for Cystic Fibrosis, but with treatments and supplements, people with the disease can live a normal life.
“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 a hereditary disease that affects all exocrine glands and leads to dysfunction in their secretion. These diseases, mainly affect the Caucasian population. Early in the development of the disease, the pancreas of the patient with cystic fibrosis plugs with secretion. As the disease progresses, the lung become involved and starting secreting a thick and viscous mucus that plug the airway and leads to airway obstruction and chronic infection in cystic fibrosis patients. As a result, there are different respiratory complication with
However, the FDA has approved drugs and there are other treatments available to lengthen the lifespan of the patient. There is chest physical therapy which is a form of shaking up the mucus in the lungs so it can be coughed up. Also there is a nebulized (inhaled) medication that degrades the DNA’s ability to make the sticky mucus. Other antibiotics like tobramycin, colistin, gentamicin, and ceftazidime prevent infection within the lungs and reduce inflammation. Due to the subject’s decreased ability to supply the body with oxygen, supplemental oxygen can be given. Not only is the respiratory system affected, but also the digestive system. Nutrition also needs to be monitored; it is imperative that the patient drinks enough water to promote the removal of the mucus. “Approximately 90% of patients with CF have pancreatic exocrine insufficiency and require oral pancreatic enzyme supplementation with meals”. They are given fat malabsorption in CF, so they are given an enzyme to help with digestion and secretion of the mucus. Other systems affected include the liver, intestines, reproductive tract, and the endocrine system. Cystic fibrosis was considered a fatal childhood disease, but with new medicine and technology, the expected survival age has risen to 37 years. Patients’ quality of life has also improved
Cystic fibrosis is a life-threatening disease that causes damage to the lungs and digestive system. This disease is constantly being researched to find a cure and to develop different treatments to lessen the disease’s effects. CF causes a multitude of defects to how a person’s body functions because of the gene mutation they are born with.
A person is either a carrier of the defective CF gene, not a carrier of the CF gene, or will have cystic fibrosis. If a person has cystic fibrosis that means that the defective CF gene was received from each parent. If a person does not have two defective CF genes but does have one defective CF gene then he/she is a carrier of cystic fibrosis. There are more than seventy thousand people leaving with this disease worldwide, and most are diagnosed by the age of just two (“About Cystic Fibrosis,” n.d.). That is a very large population so as a nurse it is beneficial to know what this disease is and how and why it
Cystic fibrosis (CF) is a disease that is caused by a defective gene that is inherited from both parents. The defective gene causes a person’s body to release thick sticky mucus which subsequently causes the patient’s airways to be blocked. Cystic fibrosis is a chronic respiratory disease with typical symptoms being digestion, wheezing, lung infection, stuffy nose, and a persistent cough.