Cystic Fibrosis Research Paper
Cystic fibrosis is a medical condition that is caused by a gene mutation. In spite of the fact that it may be seen as a relatively rare due to its autosomal recessive nature, the evidence shows that it is one of the most common life-limiting health conditions in the world, mostly spread among people with European ancestry. The key element of the disease involves thickening of mucus. Due to the fact that the same gene is responsible for the develop of mucus in different organs, lungs, liver, pancreas, intestine, and kidney tend to be affected in various ways. There are also some complications of the diseases, for example, a unique type of diabetes. As of now, there is not cure for this health condition. The available treatment is directed at supporting the function of the organs and making mucus less thick.Cystic Fibrosis Research Paper
WHAT IS GOING ON?
Cystic fibrosis occurs when the density of mucus that is typically found in lungs is higher than the norm. This results in the clogging of the major airways as the mucus builds up over the years, starting with birth. The worst side effect of it is that the bacteria that are found in lungs have an abundant environment to grow and grow out of control. This leads to chronic infections of the lungs. Therefore, lung infections and inflammations become common (Gibson, Burns, & Ramsey, 2003). Cystic fibrosis also affects parts of the gastrointestinal tract. Since mucus in pancreas often has nature as its counterpart in the lungs, its increased density negatively impact the function of this organ. This generally leads to malabsorption due to inability to break down the nutrients. In addition to that, parts of the pancreas that are responsible for making insulin will also be negatively affected which contributed to the development of a special type of diabetes that is shares features of type 1 and type 2 (Moran, Dunitz, Nathan, Saeed, Holme, & Thomas, 2009). The increased density of mucus affects liver as well, causing the inability to produce important proteins. Furthermore, the patients with cystic fibrosis may be infertile due to increase malfunctioning of production of sperm (for men) or thickened cervical mucus and malnutrition (for women).Cystic Fibrosis Research Paper
WHAT HAS GONE WRONG?
The root cause of the health condition in question is the mutation of a particular gene. The latter is called cystic fibrosis transmembrane conductance regulator. In the majority of the cases, the mutation is manifested in the deletion of several important nucleotides, namely phenylalanine at the 508th position on the protein (Du, Sharma, & Lukacs, 2005). While this is not the only reason why the health condition in question is developed, it is responsible for more than three-thirds of all cases. It is worth pointing out that the mutation happens only when a person received to recessive genes from the parents. This makes the chances of developing it one in four. Speaking of the manifestation of the actual mutation, one should mention the following: the malfunctioning protein mentioned above blocks the flow of H20 and Cl– ions (Hollenhorst, Richter, & Fronius, 2011). So, while under normal conditions these substances are allowed to flow freely, the build-up of the mucus prevents them from doing so. This triggers major changed in the organism. Another point that should be mentioned with this regard is build up of mucus in various organs that result in malfunctioning. For example, in lungs, the mucus reduces the volume of airways which leads to the situation when less air gets to the alveoli. This causes difficulties in breathing and has a generally negative impact on the organism. One should also keep in mind that the gene which was mentioned above is responsible for the production of mucus in different organs. Therefore, the increased density will have a negative impact on them as well.Cystic Fibrosis Research Paper
WHAT IS HAPPENING TO THE BODY?
If one considers the changes that occur in the body, one will be able to outline several. First of all, one should mention frequent lung infections and inflammations. This happens due to the fact that bacteria start growing beyond control and create colonies that are difficult and with time impossible to eradicate. Thus, due to the fact that the bacteria colonize the organ for a considerable period of time, they create biofilms that make it particularly difficult for cells of the immune system to exterminate the bacteria (Singh, Schaefer, Parsek, Moninger, Welsh, & Greenberg, 2000). As a result, antibiotics will not be useful as well. Another point that should be mentioned with this regard is that the strain of bacteria is gradually changing. For example, many patients host Staphylococcus aureus in the early stages, but this population is later substituted by Pseudomonas aeruginosa (Miall, McGinley, Brownlee, & Conway, 2001). As a result, antibacterial treatment is rarely effective. It is worth keeping in mind that lungs are not the only organ that heavily relies on mucus and the work of which can be heavily affected by changes in the density. The pancreas is yet another organ which is negatively impacted by the medical condition in question. Thus, thickened secretion prevents it from providing the sufficient amount of digestive juices which are responsible for breaking down the food. This leads to the situation when the nutrients from the food are not absorbed properly. So, regardless of the amount of food intake, a person will not be able to gain weight.
SIGNS AND SYMPTOMS
Signs and symptoms of cystic fibrosis are particularly important because they allow doctors to diagnose it without needed to perform genetic tests. One of the major symptoms which have been described several centuries ago is salty-tasking skin (Quinton, 2007). This happens due to changes in the work of sweat glands and increases the concentration of minerals in the sweat. The next common symptom focuses on poor growth which can be explained by the fact that several organs of the body are not functioning properly. However, this symptom is not observed until later when the differences in growth become apparent. A related sign is poor weight gain. Thus, a person may have a normal or increased food intake, but the weight will remain the same. This happens due to malfunctioning of the pancreas which does not produce the needed enzymes that would break down the nutrients. As a result, the latter are not absorbed. Shortness of breath is yet another common symptom (Cohen, & Dawson, 2002). It occurs due to the blockage of main airways by the mucus. As a result, their volume decreased which means that a smaller amount of air ends up in the lungs. Frequent or even chronic chest infections are also a common sign of cystic fibrosis. The bacteria in the lungs form biofilms that protect the colonies and allow them to thrive, minimizing the effectiveness of immune cells and antibiotics. Other symptoms that should be noted as clubbing of the fingers as well as infertility.Cystic Fibrosis Research Paper
CONCLUSION
Having examined all the points that were mentioned in the paragraphs above, one is able to come to the following conclusion cystic fibrosis is a serious medical condition that is manifested in several organs. The root cause of it is the mutation of a gene that is responsible for the density of the mucus. In the case of a mutation, the flow of H20 and Cl- ions is blocked by the thick mucus. This leads to malfunctioning of different organs, primarily those that rely on my mucus. As a result, lungs, pancreas, and liver are heavily influenced. The major symptoms of the health condition in question include shortness of breath, poor growth, and weight gain, clubbing of the fingers, diabetes, and infertility.Cystic Fibrosis Research Paper
References
Cohen, S. P., & Dawson, T. C. (2002). Nebulized morphine as a treatment for dyspnea in a child with cystic fibrosis. Pediatrics, 110(3), e38-e38.
Du, K., Sharma, M., & Lukacs, G. L. (2005). The ΔF508 cystic fibrosis mutation impairs domain-domain interactions and arrests post-translational folding of CFTR. Nature structural & molecular biology, 12(1), 17-25.
Gibson, R. L., Burns, J. L., & Ramsey, B. W. (2003). Pathophysiology and management of pulmonary infections in cystic fibrosis. American journal of respiratory and critical care medicine, 168(8), 918-951.
Hollenhorst, M. I., Richter, K., & Fronius, M. (2011). Ion transport by pulmonary epithelia. BioMed Research International, 1(1), 1-16.
Miall, L. S., McGinley, N. T., Brownlee, K. G., & Conway, S. P. (2001). Methicillin-resistant Staphylococcus aureus (MRSA) infection in cystic fibrosis. Archives of disease in childhood, 84(2), 160-162.
Moran, A., Dunitz, J., Nathan, B., Saeed, A., Holme, B., & Thomas, W. (2009). Cystic fibrosis–related diabetes: current trends in prevalence, incidence, and mortality. Diabetes care, 32(9), 1626-1631.Cystic Fibrosis Research Paper