This paper discusses the etiology and risk factors of cystic fibrosis, followed by pathophysiological processes, clinical manifestations, and complications of the disease along with the diagnostics plan. Learn more on Desklib.
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Running head: PATHOPHYSIOLOGY OF CYSTIC FIBROSIS PATHOPHYSIOLOGY OF CYSTIC FIBROSIS Name of the Student Name of the University Author Note
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Running head: PATHOPHYSIOLOGY OF CYSTIC FIBROSIS Table of Contents Introduction:....................................................................................................................................3 Etiology and Risk factors:...............................................................................................................3 Pathophysiology processes:.............................................................................................................4 Clinical manifestations and complications:.....................................................................................4 Diagnosis:........................................................................................................................................5 Conclusion:......................................................................................................................................5 References:......................................................................................................................................6
Running head: PATHOPHYSIOLOGY OF CYSTIC FIBROSIS Introduction: Cystic fibrosis is a genetic disease that is transmitted from one generation to another. The human body produces thick mucus as a result of cystic fibrosis. This mucus clogs the lungs and blocks the path through pancreas (Stoltz, D. A., Meyerholz & Welsh, 2015). On severe complication, cystic fibrosis can progress to liver disease and diabetes. Lung infections are caused due to inability in coughing out the mucus from the lungs. The thickness of mucus causes this condition. Pancreatic functions are stopped because the enzymes are unable to breakdown the food. This condition gives rise to digestive problems. Thirty thousand people are affected by cysticfibrosisintheUnitedStates.Onethousandnewcasesarediagnosedeveryyear (Stephenson et al., 2017). According to statistical reports, seventy-five per cent of the total patients are children under two years. This paper first discusses the etiology and risk factors of the disease. Then this paper talks about pathophysiological processes, followed by the clinical manifestations and complications of cystic fibrosis along with the diagnostics plan. Etiology and Risk factors: Cystic fibrosis is caused by a defect in thecftrgene, which controls the movement of electrolytes within the human body. This gene is located on chromosome 7 (Cutting, Engelhardt, & Zeitlin 2019). Associated risk factors of the disease are hereditary. These defective genes, when passed on from one generation to another. Classes one, two and three are the most adverse ones, whereas categories three and four are mild. Cystic fibrosis becomes much more dangerous at higher ages. This is because the body fails to repair the defective genes, and cystic fibrosis progresses on uncured. Cystic fibrosis affected people has to intake a considerable amount of calorie to maintain weight and growth. Regular physical exercises can support the healthy state
Running head: PATHOPHYSIOLOGY OF CYSTIC FIBROSIS of lungs. Alcohol intake and smoking should be avoided, which can prevent further blockage of lungs. Pathophysiology processes: Cystic fibrosis is caused by mutations in thecftrgene (Cystic Fibrosis Transmembrane ConductanceRegulator).Thistransporterisresponsiblefor chlorideiontransportinthe membranes of the cell. Exocrine glands are mainly affected, and they cause very thick secretions. These secretions mainly include mucus, which blocks the passage of lungs and pancreas (Hubert & Vanmeter). Salivary glands are moderately affected. The secretions of salivary glands consist mostly of sodium chloride and mucus which blocks the sub-maxillary and sublingual glands. The reproductive system is also affected. Vas deferens present in males and cervix present in females are the main affected organs of the body. The immune system of the host body does not function properly. T cells, macrophages and neutrophils are present in lower amounts, which are not enough to fight a lung infection. As a result, the body loses the ability to fight a lung infection associated with the onset of cystic fibrosis. Clinical manifestations and complications: Physicalsymptomsincludepersistentcough,wheezing,intolerancetoexercising, breathlessness and inflammation of the nasal passages. These symptoms, when extended, are used by doctors to diagnose cystic fibrosis. The skin of the patient becomes salty. Doctors can perform a sweat test, in which they apply a chemical to a particular area of skin of the patient. Weight gaining failure is also used as an acute physical symptom to diagnose the disease. Impaired weight gain condition is majorly due to pancreatic dysfunction, one of the primary effects of cystic fibrosis (Corley, Meyerholz & Engelhardt, 2016). Respiratory problems can also
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Running head: PATHOPHYSIOLOGY OF CYSTIC FIBROSIS be used to diagnose diseased conditions. Complications of cystic fibrosis mainly include coughing of blood, diabetes, infertility, nasal polyps and sinusitis. These problems are associated with a very late stage of cystic fibrosis during which the immune system of body fails drastically. Respiratory failure may also occur, which can make the person stop breathing instantly. Therefore, it can be stated that cystic fibrosis branches to many other diseased conditions in the human body. This condition occurs as cystic fibrosis is a disease which has a starting point at a genetic level. Diagnosis: Sweat tests can be used by diagnostic professionals to test the presence of high content of chloride in the body. These chloride ions get an easy way to escape the pores of the skin since the transported fails to work during cystic fibrosis. A blood test can also be performed to test the proper functioning of liver and pancreas (Farrell et al., 2017). Immunoreactive Trypsinogen test is used by doctors to verify the presence of trypsinogen in newborns. Sputum test, chest x-ray, and CT scan can be performed to check the presence of cystic fibrosis. Conclusion: On a concluding note, it can be stated that cystic fibrosis is a genetic disorder which can be treated if diagnosed at the right time. This disease has various complications which involves other disorders in the human body. However, this disease can be fatal if it progresses undetected. A good future can be hoped of provided that correct diagnosis and treatment procedures are follower to stop the disease progression.
Running head: PATHOPHYSIOLOGY OF CYSTIC FIBROSIS References: Cutting, G. R., Engelhardt, J., & Zeitlin, P. L. (2019). Genetics and pathophysiology of cystic fibrosis. InKendig's Disorders of the Respiratory Tract in Children(pp. 757-768). Content Repository Only!. https://doi.org/10.1016/B978-0-323-44887-1.00049-3 Farrell, P. M., White, T. B., Derichs, N., Castellani, C., & Rosenstein, B. J. (2017). Cystic fibrosisdiagnosticchallengesover4decades:historicalperspectivesandlessons learned.TheJournalofpediatrics,181,S16-S26. https://doi.org/10.1016/j.jpeds.2016.09.067 GibsonâCorley, K. N., Meyerholz, D. K., & Engelhardt, J. F. (2016). Pancreatic pathophysiology incysticfibrosis.TheJournalofpathology,238(2),311-320. https://doi.org/10.1002/path.4634 Hubert, R., & VanMeter, K.Gould's pathophysiology for the health professions(6th ed.). Stephenson, A. L., Sykes, J., Stanojevic, S., Quon, B. S., Marshall, B. C., Petren, K., ... & Goss, C. H. (2017). Survival comparison of patients with cystic fibrosis in Canada and the United States: a population-based cohort study.Annals of internal medicine,166(8), 537- 546.https://annals.org/aim/article-abstract/2609289/survival-comparison-patients-cystic- fibrosis-canada-united-states-population-based Stoltz, D. A., Meyerholz, D. K., & Welsh, M. J. (2015). Origins of cystic fibrosis lung disease.New England Journal of Medicine,372(4), 351-362. 10.1056/NEJMra1300109