Part 1
Cystic fibrosis is a disorder that has been proven to have profound effects on the genetic makeup of an individual. This condition mainly affects the lungs and the alimentary canal. The other body organs likely to get affected by the disease include the kidneys, pancreas, intestines and the liver. It has been established that the condition compromises the functioning of the body cells responsible for the production of digestive, mucus and sweat juices (Mayo Clinic., 2016). Under normal circumstances, these cells are usually thin and slippery but if they become affected, the secretions they produce turn sticky and thick. As such, instead of the fluids playing their role of lubrication, they end up blocking these passages. The condition is usually passed down from one generation to another in an autosomal recessive mode.
Pathophysiology
This condition is usually brought about by the mutation of the cystic fibrosis transmembrane conductance regulator abbreviated as (CFTR). If more mutations occur, chances of a more severe or a milder condition occurring are high. The CFTR protein is responsible for the control of chloride and water ions into and out of the lung cells. Proper functioning of the proteins allows for the easy flow of ions to the required localities (Mayo Clinic., 2016). In the event that the CFTR protein does not properly absorb the essential water and chloride ions in sweat ducts, they are released from the area of secretion then pumped to regions below the skin. As such, the excess chloride produced cannot be satisfactorily absorbed by the epithelial sodium channel thereby leading to the formation of Cystic fibrosis. The disease is shown by the presence of thick mucus in the lung areas.
Epidemiology
This condition has been established to be the most life-limiting condition of all autosomal diseases. The persons mainly affected by it are individuals with European descent. The United States carries the biggest number of persons with the disease followed by Canada. About four percent of persons with European descent and three percent of those with Caucasian American descent have been established to be carriers of cystic fibrosis (Salsgiver et al., 2016). Asians and Africans are the least affected by the condition with one in every nine and one in every sixty-five harboring the risk of contracting the condition respectively. Males affected by the disease tend to have elongated life spans compared with members of the female gender.
Part 2
Diagnosis
The commonest form of diagnosis is by screening new-born children to determine if they may be harboring the condition. Infant screening involves checking whether there is abnormal immunoreactive trypsinogen which is usually released by the pancreas. A positive test indicates that such an infant may have been born with the condition. For older children and adults, recurring bouts of pancreatitis, chronic sinus or nasal polyps are indications that call for sweat and genetic tests to establish the presence of the condition.
Management
Considering the fact that there is no cure for the condition, it is imperative that the management of the condition be centered on easing symptoms and reducing complications. The possible reprieve for this condition includes utilizing antibiotics to avert any lung infections, administration of oral enzymes meant for boosting the absorption rates of the digestive system in addition to employing mucus-thinning drugs which assist in coughing out the mucous which build up (Mogayzel et al., 2013).
Follow up care
Since these individuals are prone to complications, it is imperative that the follow-up care which they employ addresses the condition. The factors that need to be considered in follow-up care include paying close attention to proper diet and intake of fluids. It is important to take more fluids in addition to eating meals rich in higher calorific value. Secondly, persons suffering from the condition should ensure that they keep themselves updated regarding their immunizations. It is essential for them to go for annual influenza vaccinations (Mayo Clinic, 2016). Regular exercises are also supposed to form part of the follow-up care as they assist greatly in loosening mucus in the airways. Smoking cessation and proper hand washing should also be observed in reducing infections risks.
Part 3
Culture and its impact of Cystic Fibrosis
Cystic fibrosis has been established to be a genetic disease. As such, individuals who are intimately related tend to pass down their genes to newer generations. Due to this realization, therefore, persons from the Amish community are likely to be the biggest victims of the condition since their culture allows for intermarriages within a closed community. Such cultural practices are a possible precursor for easily spreading the disease (Katz et al., 2013). Additionally, since these persons do not believe in modern science and medicine, there are possible challenges as far as the management of the condition is concerned. By them not using modern medical techniques and screening methods, the patient has got higher chances of emerging with undesirable outcomes, for instance, a deterioration of the condition or death in the worst case scenario.
References
Döring, G., Flume, P., Heijerman, H., Elborn, J. S., & Consensus Study Group. (2012). Treatment of lung infection in patients with cystic fibrosis: current and future strategies. Journal of Cystic Fibrosis, 11(6), 461-479.
Katz, M. L., Ferketich, A. K., Paskett, E. D., & Bloomfield, C. D. (2013). Health literacy among the Amish: measuring a complex concept among a unique population. Journal of community health, 38(4), 753-758.
Mayo Clinic. (2016). Cystic fibrosis - Mayo Clinic. Retrieved from http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/definition/con-20013731
Mogayzel Jr, P. J., Naureckas, E. T., Robinson, K. A., Mueller, G., Hadjiliadis, D., Hoag, J. B., & Marshall, B. (2013). Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. American journal of respiratory and critical care medicine, 187(7), 680-689.
Salsgiver, E. L., Fink, A. K., Knapp, E. A., LiPuma, J. J., Olivier, K. N., Marshall, B. C., & Saiman, L. (2016). Changing epidemiology of the respiratory bacteriology of patients with cystic fibrosis. CHEST Journal, 149(2), 390-400.
