Soon you will be a nurse! Eventually, you’ll need to know about all kinds of disorders and diseases, but you’ll learn all about that starting next term with your pathophysiology course(s). With this assignment, you’ll get just a small taste of how the systems of the body work together, and what might go wrong, using just one example.
Using your notes, the course textbook, research techniques, and critical thinking skills, answer the questions on the next page to the best of your ability based on your assigned disorder/disease
Cystic fibrosis is a progressive and genetic disorder that results in development of persistent lung infections. This disorder limits the ability of the affected individuals in breathing over time. Some of the symptoms are persistent cough along with the production of thick mucus, wheezing as well as shortness of breath, bowel disturbances like frequent oily stools and intestinal obstruction, frequent chest infections including pneumonia (Stephenson et al., 2017). Some others are weight loss of failure in gaining weight despite of the increase in appetite, salty tasting sweat and even decreased fertility in women and infertility in men. Genetic or carrier testing is the main test that helps in diagnosing the disorder and even helps couples to realize their chances of having CF babies during the time of family planning. This test helps in finding out whether a person carries mutation of the CFTR gene (Corvol et al., 2015). The test mainly focuses on the DNA of the person taken from the cells in the blood sample or from cells that are scraped gently from indie of the mouth.
Child inheriting one copy CFTR gene mutation from each parent gets affected with the disorder. People who have one copy of the gene only are called the carriers. In cystic fibrosis, the mutated gene causes alteration of the protein that regulates the movement of the salt in and out of the cells. This results in the thick as well as sticky mucus in the respiratory, reproductive and even the digestive systems along with increase in salt and sweat. Children require to have one copy of gene from every parent to develop the symptoms (McIntosh, 2016). If one copy is inherited, they will not develop the disorder but they will pass them on to their next generation. Therefore, the risk factors are family history and race. As the disorder is an inherited disorder, it is seen to run in families. Cystic fibrosis might occur in all races but they are found to be more common among the white people like those belonging to Northern European Ancestry and similar others.
The respiratory system can be founded to be divided into two parts. These are upper respiratory tract as well as lower respiratory tracts. The former mainly constitutes the nasal passages as well as sinuses whereas the lower respiratory tract has the shape of an upside-down tress containing progressing smaller branches. The lower tract is seen to comprise of the trachea (main passage). Bronchi (two large air passages) as well as bronchial tubes (smaller air passages) and the alveoli (air sacs). Studies state that tiny air-like cells called the cilia help in keeping the lungs clear and clear. The cilia, which line the lower respiratory tract, help in moving the dust, germs and even mucus from the smaller passages to the larger ones from where they are coughed out by individuals (Hanxhiu et al., 2017). The respiratory system mainly helps in bringing oxygen into the body and causes removal of carbon dioxide from the body as the waste gas. In case of affected individuals, it is seen that the cilia in their lungs cannot move the sticky and thick mucus out of the smaller passages. The excessive mucus that is formed as the result of the disorder causes clogging of the air passages causing the chronic cough as well as lung infections. Studies are of the opinion that repeated lung infections can result in leading to different lung damages as well as causing of breathing problems and difficulty in getting enough oxygen into the body.
Thereby, cystic fibrosis has been considered to be one of the leading cause of bronchiectasis which is a condition that causes damage to the airways. This would make it harder to move air in and out of the lungs. It also causes severe chronic infections in the individuals as thick mucus and sinuses might provide an ideal breeding ground for different bacteria as well as fungi. They suffer from sinus infections, pneumonia and bronchitis. Growth in the nose and nasal polyps, coughing up blood hemoptysis and even pnuemothorax, respiratory failures and even acute exacerbations are some of the issues that individuals faces due to issues faced by the individual in the respiratory systems (Petruzziello-Pellegrini et al., 2018).
The digestive system as well as the gastrointestinal tracts is seen to contain several organs that are involved in the digestion of food. Within the mouth, the food is chewed and mixed with saliva. Following entry through the esophagus thereby into the stomach, the food will mix with the different stomach enzymes that would further helps in breaking of the food particles. Partially digested food particles need to enter into the small intestines where its mixes with the enzymes that are secreted by the pancreas and the bile. Bile is formed within the liver and thereby it is stored in the gall bladder. These enzymes complete the digestive procedures (Lautrup et al., 2018). As the food, which is digested passes through the small intestines, the blood stream is seen to absorb the nutrients and thereby take them to the different parts of the body. The remaining of the undigested parts like that of the fiber is seen to pass into the large intestine where the water would be absorbed. The undigested foods and wastes are collected in the rectum and eventually leave the body as the stool.
When the person is suggested with the cystic fibrosis disorder, the thick and the sticky mucus are seen to block the pancreatic ducts. This prevents the enzymes from reaching the small intestines for digesting the foods. This affects the digestion process causing incomplete digestion along with poor absorption of the nutrients (cysticfibrosis.ca, 2018). Large, loose and foul-smelling stools also associate with the occurrence of the disorders. Studies are of the opinion that this condition that is called pancreatic insufficiency would occur in about 85 percent of the people who suffer from cystic fibrosis. Many of the studies have associated this disorder with the occurrence of many complications in the digestive tracts. This is seen to include different nutritional deficiencies. Thick mucus is seen to block the tubes that participate in carrying different digestive enzymes from the pancreas to that of the intestines. Without these enzymes, bodies fail to absorb fats, proteins and fat-soluble vitamins (Medic et al., 2017). Cystic fibrosis also increases the risk of developing diabetes as the disorder affects the pancreas, which is responsible for producing insulin used to manage the blood sugar level in individuals. Blocked bile duct, intestinal obstruction, as well as distal intestinal obstruction syndromes are also found to occur in individuals who are affected by cystic fibrosis.
Another organ system that gets affected by the disorder is the reproductive systems. People with cystic fibrosis have normal reproductive systems. As adults, they have the capacity in having coitus but they may have fertility problems as well. Studies have shown that about 95 percent of the males and 20 percent of the females with cystic fibrosis are found to be infertile. In case of men, the vas deferens are the tubes responsible for carrying the sperm from the testicles to that of the penis. When men are found to be affected by cystic fibrosis, they can go through a normal erection as well as ejaculation but the semen might contain no sperms. In case of women, different types of fertility problems might occur (Stacey et al., 2015). This would result from thick mucus blocking cervix as well as opening to the uterus. This blockage would prevent the sperm from reaching the egg for fertilization. As a result, the normal mechanism of the sperm traveling through the cervix to reach the eggs and subsequent fertilization would not take place resulting in failure of fertilization and the women failing to conceive.
There is no particular treatment for the individuals who are affected with the disorder. However, goals of treatment should therefore be based on easing symptoms as well as preventing and treating complications and thereby slowing the progress of the disorders. Treatment generally focuses on two important areas. One is the management of lung problems. The former category would mainly include the physical therapies, regular exercises for loosening the mucus, stimulating coughing and improving overall physical conditions (Saad et al., 2018). The other interventions would be involving medications for thinning mucus and helping in breathing, utilization of antibiotics for treatment of infections. Others would be the anti-inflammatory medications. The management of digestive problems requires the education to the patients for maintaining a healthy diet higher in calories and using pancreatic enzymes for helping in digestions. Vitamin supplements as well as treatment for intestinal blockages are also found to be important.
Airway clearance help in loosening and getting rid of the thick mucus that build up in the lungs airway clearance techniques can be helpful like that of the inflatable vests that vibrate the chest at a higher frequency helping in loosening and thinning the mucus. Inhaled medications are liquid medications that are made in the form of mist or aerosol. They open the airways or thinning the mucus. These medications include the antibiotics for fighting lung infections and therapies for keeping airways clear. Pancreatic enzyme supplements help in improving absorption of the vital nutrients (Pakkhale et al., 2016).
Data suggests that one in every 3600 children are born in the nation of Canada with cystic fibrosis. Moreover, 4300 children, teenagers and even adults are seen to attend specialized treatment for CF in the clinics. Approximately, about 60% of the patients in the nation are diagnosed within first year of their life and 90% of the people are diagnosed within 10 years of the life (Boikos et al., 2017).
In the year 2013, 1858 hospitalizations were recorded and the most common cause of admission was the pulmonary exacerbation. In total, about 676 courses of home IV therapy were recorded in data (Raeside et al., 2017).
Boikos, C., Papenburg, J., Martineau, C., Joseph, L., Scheifele, D., Chilvers, M., ... & Quach, C. (2017). Viral interference and the live-attenuated intranasal influenza vaccine: Results from a pediatric cohort with cystic fibrosis. Human vaccines & immunotherapeutics, 13(6), 1254-1260.
Corvol, H., Blackman, S. M., Boëlle, P. Y., Gallins, P. J., Pace, R. G., Stonebraker, J. R., ... & Dang, A. T. (2015). Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis. Nature communications, 6, 8382.
cysticfibrosis.ca (2018), What is cystic fibrosis Cystic Fibrosis Canada. Retrieved from: https://www.cysticfibrosis.ca/
Hanxhiu, A., McKay, K., Singh-Grewal, D., & Fitzgerald, D. A. (2017). Question 10: Could the Burden of Care with Cystic Fibrosis Impact on Educational Outcomes?. Paediatric respiratory reviews, 23, 56-60.
Lautrup, K. R., Mctaggart, N. K., & Spina, S. P. (2018). P275 The prespectives of Canadian cystic fibrosis pharmacists and patients on the role of the cystic fibrosis pharmacist in an outpatient multidisciplinary care team. Journal of Cystic Fibrosis, 17, S137.
McIntosh, I. D. (2016). Health human resources guidelines: minimum staffing standards and role descriptions for Canadian cystic fibrosis healthcare teams. Canadian respiratory journal, 2016.
Medic, G., Hines, E. A., Kaestle, P. M., Chen, E., van Olden, R. W., & Hemels, M. E. H. (2017). 369 Adult cystic fibrosis patient experience with inhaled antibiotics: perspectives from the United Kingdom, France, Germany, Italy, Spain, Sweden and Canada. Journal of Cystic Fibrosis, 16, S156.
Pakhale, S., Baron, J., Armstrong, M., Tasca, G., Gaudet, E., Aaron, S. D., ... & Balfour, L. (2016). Lost in translation? how adults living with cystic fibrosis understand treatment recommendations from their healthcare providers, and the impact on adherence to therapy. Patient education and counseling, 99(8), 1319-1324.
Petruzziello-Pellegrini, T. N., Jeanneret, A., Montgomery, M., Rivard, G., Tullis, E., & Cantin, A. M. (2018). Cystic fibrosis in Canada: A historical perspective. Canadian Journal of Respiratory, Critical Care, and Sleep Medicine, 1-10.
Raeside, F. C., Barclay, S., & Morrison, L. (2017). WS16. 5 Is the Lung Flute a useful airways clearance technique for cystic fibrosis patients?. Journal of Cystic Fibrosis, 16, S29-S30.
Saad, E. Y., Leung, W. M., Smith, M. P., Salgado, J., Hassan, I., & Brown, N. E. (2018). Comparison of home and hospital intravenous antibiotic therapy for clinical outcome in patients with a pulmonary exacerbation of cystic fibrosis. Do they always need to be admitted?. Canadian Journal of Respiratory, Critical Care, and Sleep Medicine, 1-5.
Stacey, D., Vandemheen, K. L., Hennessey, R., Gooyers, T., Gaudet, E., Mallick, R., ... & Aaron, S. D. (2015). Implementation of a cystic fibrosis lung transplant referral patient decision aid in routine clinical practice: an observational study. Implementation Science, 10(1), 17.
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.
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