Cystic Fibrosis is an inherited illness that is caused by the mutation of the gene that encodes for a chloride-conducting transmembrane channel referred to as cystic fibrosis transmembrane conductance regulator (CFTR), which regulates the transportation of anion mucociliary clearance in airways. According to Elborn (2016), dysfunction in CFTR results in mucus retention and chronic infection that is harmful to the lungs. The illness also affects other organs of the body, and morbidity and mortality are primarily caused by the small airways obstruction and progressive respiratory impairment. Although the diagnosis procedure is standard, the signs and symptoms vary across the patient population.
The signs and symptoms of cystic fibrosis vary from one patient to the other. According to Edmondson et al. (2018 ), the disease affects major body parts, and the first sign is salty-tasting skin. If the cystic has affected the respiratory system, persistent coughing, frequent lung infections, and shortness of breath are noted. The cysts on the digestive system block the duct of the pancreases, which leads to greasy or bulky stools. Markedly, intestinal cysts are common in newborns, which causes severe constipation and stomach discomfort. Poor growth and challenges in weight gain are a hallmark of CF in kids since they are unable to acquire the needed nutrients. Dehydration, gallstones, and diabetes are also problems associated with CF. However, symptoms such as clubbing and low bone density occur in the late stage of the disease. Therefore, it imperative to conduct a proper diagnosis to determine whether a patient has CF in the early stages. According to Elborn (2016) , screening is done on newborn babies, especially in countries with a high-level prevalence of CF as a means to warrant early detection of the condition. Additionally, the sweat test is used to test CF ( Edmondson et al., 2018). Evidently, the signs and symptoms of the CF vary from one patient to the other, therefore, it is crucial that caregivers acknowledge divergencies in the manifestation of the condition in different patients.
Delegate your assignment to our experts and they will do the rest.
References
Edmondson, C., Grime, C., Prasad, A., Cowlard, J., Nwokoro, C., Ruiz, G., … Balfour-Lynn, I. (2018). Cystic fibrosis newborn screening: outcome of infants with normal sweat tests. Archives of Disease in Childhood , 103 (8), 753–756.
Elborn, J. (2016). Cystic fibrosis. The Lancet , 388 (10059), 2519–2531.
