Cystic fibrosis is a recessive, genetic illness, which affects the work of lungs, liver, intestine, and pancreas. This disease causes malfunctioning of the chloride and sodium transportation across the body and results in the thick and viscous secretions. Nowadays, cystic fibrosis affects thousands of people, especially in Europe and the US. Although, cystic fibrosis is a rare disease, it is quickly spreading all over the world and leads to the general shortage of life. In fact, it is a serious disease, which calls for an immediate diagnosis and appropriate treatment.
History of the Disease
Cystic fibrosis was discovered in the first half of the 20th century. However, without doubts, it emerged thousands of years before. The researchers surmise that cystic fibrosis appeared about 3000 BC, as a result of migration and gene mutation. During the 16-17th centuries, the salty taste of the skin (which is the symptom of cystic fibrosis) was considered a sign of bewitchment.
Dr. Dorothy Andersen was the very first to describe the peculiarities and main characteristics of this disease. Before that investigation, the humanity had already known some facts and elements of cystic fibrosis. The reason for such late examination of this disease can be explained with the lack of required tools and means. Even nowadays, there are still many researches, aiming at providing objective information about cystic fibrosis and applying to the methods of the newborn and antenatal screening and carrier testing.
In 1985, Professor Lap-Chi Tsui made an important discovery and narrowed down the gene, responsible for causing cystic fibrosis, to the seventh chromosome. The scientist investigated the reasons and causes of the disease with the main purpose of finding out the right treatment. His achievements in this sphere are considered to be the most profound ones, even nowadays. At the end of the 20th century, it became obvious that cystic fibrosis tends to spread among people through the social contacts.
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Symptoms and Effects
Cystic fibrosis possesses specific symptoms, which are easy to observe and diagnose. They include salty tasting skin, accumulation of thick, sticky mucus, problems with weight gain, and difficulties with breathing. Moreover, the infected people become especially vulnerable to coughing and various chest infections. As a rule, the symptoms of cystic fibrosis are revealed in the childhood. Children experience the release of mucus and its abnormal production. Nevertheless, it is not always possible to diagnose cystic fibrosis, at an early age. Usually, it becomes obvious in case a child feels problems with gaining the appropriate weight, in comparison with the peers. As a rule, the lack of weight witnesses about the development and progression of the disease. The disease, in its turn, is explained with malfunctioning of lungs, insufficient food absorption, and increased metabolic requirement caused by the chronic illness.
The impact of cystic fibrosis is especially ruining for lungs. The abnormal production of mucus leads to the decreased mucociliary clearance and inflammations. As a result, the lungs become prone to different infections and injuries. This fact explains the connection between cystic fibrosis and coughing, shortness of breath, excessive phlegm production, and decreased productivity of the organism, in general.
However, the consequences of cystic fibrosis may be even more dangerous and serious. Therefore, in the later stages of the disease development, the bacteria may cause pneumonia or even changes in the lungs structure. For example, the infection can lead to the development of bronchiectasis, hemoptysis (coughing up blood), pulmonary hypertension, and hypoxia. These diseases and states may also combine with other lung diseases, which occur as a result of cystic fibrosis.
Therefore, it is possible to say that cystic fibrosis performs an extremely negative impact on the functioning of lungs and airways. It tends to ruin the inner structure and architecture of lungs and make them vulnerable to the bacteria and infections.
At the same time, cystic fibrosis is harmful to the gastrointestinal tract. As it has been already mentioned, the diseases result in the insufficient absorption of food, loss of weight, and poor growth. The reasons for these deviations consist in the affection of pancreas and impossibility of the organism to provide the required amount of digestive juice for breaking down the food. The thick mucus, which tends to accumulate in lungs and other internal organs, obstructs the exocrine movement of the digestive enzymes and leads to the irrevocable damage of the pancreas, accompanying with the inflammation.
The danger of cystic fibrosis also consists in its harmful effect on the pancreas. This organ is responsible for creating insulin and regulating the amount of glucose in the blood. However, under the influence on cystic fibrosis, the pancreas loses this function and stops producing sufficient amount of insulin. As a result, the infected patients can suffer from the specific form of the diabetes, which shares the characteristics of the diabetes type 1 and type 2.
Additionally, cystic fibrosis leads to the reduction of the vitamin D level. As a result of this decrease, the bones become fragile and susceptible to fractures. In addition, people, suffering from cystic fibrosis may observe the clubbing at their fingers and toes, because of the low oxygen amount in the tissues and cells.
Without doubts, cystic fibrosis negatively influences the work of the whole organism and ruins normal functioning of the internal organs. Special danger consists in its complex effect, which provides threat to the lives of patients.
Treatment of Cystic Fibrosis
The treatment of cystic fibrosis has been considerably improved during the last decades. Nowadays, the newborns and children, diagnosed with the disease, have all opportunities to slow down its development and minimize its effects. Nevertheless, there are still no medicines against cystic fibrosis. The infected patients are prescribed to consume some antibiotics, in order to maintain the work of different organs on a stable level. Moreover, it is advised to undergo the regular testing and diagnosing so as to trace the disease development.
The important constitutive of the cystic fibrosis management includes the treatment of lungs and airway infections. Another pledge of recovery is the active way of life and good nutrition. Moreover, the patients should receive appropriate psychological support. In fact, people affected with cystic fibrosis should follow the course of treatment during the whole life in order to protect the internal organs and maintain high quality of life. Although, it is impossible to overcome the disease completely, the current medicine gives all opportunities to reduce its symptoms and slow down its development, to a great extent.
According to the recent researches, the effects of cystic fibrosis can be also treated with the help of transplantation and gene therapy. The latter one, for example, targets the recovery of the airways from different infections. This procedure is available since there is just one gene, responsible for the airways and their defects. Generally, one can say that the treatment of cystic fibrosis pays special attention to the recovery of lungs and airways and their protection from probable infections and bacteria.
Without doubts, the recent researches have considerably contributed to the treatment of cystic fibrosis. According to the statistics, in 1959, the average age of survival in children with cystic fibrosis was half a year while now it is more than 37 years. The positive changes witness about the progress in the disease investigation and examination. Moreover, the affected patients have more possibilities to recover due to the existence of modern technologies and equipment.
Nowadays, the new methods of treatment have been already successfully implemented. Among them, one can name the chest physiotherapy, consumption of aerosolized medications, mechanical breathing support, special massages, and many others. The researchers continue to look for the new methods of treatment in order to increase the life duration of the people, affected by cystic fibrosis.
To sum up, cystic fibrosis is a genetic disease, affecting the work of the whole organism. The first mentions about this disease date back to 3000 BC, although, it was officially discovered and analyzed only in the 20th century. The disease has a negative impact on the work of lungs, airways, pancreas, and gastrointestinal tract, resulting in the poor growth of the body, weight loss, fragile bones, abnormal mucus production, lack of vitamins, and vulnerability to infections and bacteria. All these symptoms lead to the reduction of the productivity and physical activity of individuals. The treatment of cystic fibrosis calls for a complex approach and involves the treatment of all affected organs, in particular.
Modern medicine has made significant improvement in the sphere of the cystic fibrosis treatment. Nowadays, the affected people can significantly improve the quality of life and slow down the development of the disease. Nevertheless, the amount of affected people remains quite high, especially in Europe and the US. It means that there is a need to seek for the alternative ways and methods of treatment, which could guarantee positive effect and recovery. However, with the help of scientific and technological progress, it may become quite possible to overcome cystic fibrosis completely.