Essay on Cystic Fibrosis
Genetic mapping and therapy has helped in the milestones taken for the prognosis of the disease and hopefully will provide a way for the treatment of the conditions. CF is currently untreatable and the method of maintenance that is used only battles arising infections. CF is acquired from the parent at birth and thus being a genetic condition runs in the family. As a recessive condition, it can only be expressed when both of the parents are carriers of a mutant gene in which every child born has 25% of contacting the condition (Stephenson et al. If both parents are carriers, the child has 50% of being a carrier too and only a 25% of being healthy (Aaron et al. This led to the development of both the study and description of the condition.
Dorthy Andersen described in an article in American Journal of Disease in children how CF was related to pancreatic disorders. She was the pioneers in the field and established a correlation between the condition and the lung and intestinal complications which are characteristic of the disease. Later in 1985, Hans Elberg established a linkage between CF and paroxonase which is a genetic marker that ma e used to establish a prognosis of the diseases. The mutation of Delta F508 gene was described by a trio of genetic therapists Francis Collins, Lap-Chee Tsui and John Riodarn in 1988. Sickle cell anemia is persistent in those areas prone to malaria infection. This is due to the evolutionary advantages it accords those who live in these areas by preventing habitability of the Plasmodium parasite.
Although research is inconclusive in this area, various diseases have been shown to affect less those patients who have an impairment of a specific gene associated with CF. The Cystic Fibrosis Tran membrane Conductance Regulator (CFTR) is a channel of chloride ions and a membrane protein (Pittman & Ferkol, 2015). It is encoded by the CFTR gene which is not conducive to the development of various other diseases. 7% of all cases of CF are diagnosed at birth. Another 208% are diagnosed between the ages of 2 to 15 years (Farrell et al. This forms as the preferable age to screen ones possibility of contracting the condition. There are several ways in which diagnosis for the disease is made. Prenatal screening, newborn screening, and sweat testing are some of the processes that are used to screen for the condition.
There are more than a thousand mutations that can be found on the gene. However, most viable tests and laboratory only deal with approximately 30 mutations. Since it is possible for any one of the mutations to occur, a negative prenatal result does not guarantee the absence of the condition. Rather, it gives a good probability for the condition in which the baby will be born. Newborn Screening This is another diagnostic test that is carried out to confirm the presence of the absence of the disease. This may not be a good guide as to the presence of the condition. In case the condition is suspected from the tests, the next steps to carry out the sweat tests. Sweat Test This is a test that is used to confirm the diagnosis of CF in babies.
This is done by attesting the presence of the chloride ion in high concentration in the sweat of the individual who are suspected to have the condition. If there are more than normal levels of chloride ion in the sweat, this forms a positive diagnosis of the condition in the pat9nents. The chloride channel is specifically impaired by these mutations. This is results in poor uptake of the chloride ions in the body. This poor uptake thus calls for the secretion of the chloride ions in excess compared to the sodium ions (Smyth et al. Therefore the presence of the chloride ions in excess forms as the typical diagnostic methods for the condition which is Cystic Fibrosis. The patients are induced to sweat through a solution of pilocarpine iontophoresis.
Therefore this has not only ensured that the knowledge is shared among the medical camp. In its current state, it aims at providing better care for that individual who is infected by the same. In the year 1959, CF was a mortal condition. Most of the infant who was born with the condition would succumb to it within six months. During this time the methods of diagnosis as well testing for the condition were still at the takeoff. 7 years of age (Cutting, 2015). In most of the US states, those who are diagnosed with the disease have a high chance of making it to college as well as finding fulfilling careers as well as leading full lives without any comr9mise on their ambition as well as their goals.
Quality of Living The condition is associated largely with the effect that it has on the quality of living among the patients. As expected of a chronic illness, there are very difficult to manage. In addition, this condition adds a heavy toll on the different aspects of caring for the disease. This results in a heavy emotional toll for the families who are involved in this condition. It develops a characteristic stigma which is not only related to the lowered quality of life but also is associated with difficulty in appreciating mundane activities that form the basis of our day to day life. Treatment There is no known cure for this condition. It is genetic which means that the mean of is prevention are beyond the control of the parent who inherit it to the children.
Therefore the condition is reduced to the management of the symptoms that are associated with it. The aim is to ensure that the condition is either avoided in the first place or if it is not, the condition is restructured to avoid its negative effects. Genetic therapy includes the establishment of the defective gene. The identification is accompanied by attempt is to change the same to ensure that the condition that may result from the mutation are avoided. In this particular condition, the transfer of a normal CFTR gene to the epithelia if an affected individual will stimulate the production of normal proteins (Armstrong et al. This, when done in the targeted cells, has the advantaged of not producing any discernible inflammation or conditions.
This is done despite the fact that the condition is genetic and has no preventable causes. Also, the condition remains untreatable at the moment unless there is an immediate breakthrough in the field of codon replacement or genetic therapy. Therefore, they are various methods that are used to contain and live with the conditions despite its difficulties. These include Therapeutic procedures, medication, and transplants. Therapeutic procedures These procedures are mechanical means used to dislodge the partum that is characteristic of the condition. Another method is the use f persuasive expiratory pressure physiotherapy which creates pressure during exhalation. It involves rubbing the back and the creation of extra pressure which prevents the collapse of the respiratory tubules and thus enforces the mucus out.
Permanent ventilation may be used for that individual whose case is advanced. Children benefit greatly from massage therapy since they can have revolved around their increasingly difficult breathing. Transplantation This is among what is considered when the condition is so advanced that there is no discernible help from any mechanical means. Whereas the use of these medications comes with arsis of side effects, they are contained to ensure that the level of antibiotics in the body is at manageable levels. Aminoglycoside antibiotics are attributed to such adverse side effects such as damage to the inner ear which cause an effect in the balance systems as well as the hearing systems. Other Medication There are other medications which are used to lose the thickness of the spartum which clog up the lungs.
Dornase for instance aids in the breakdown of the spartum which reduce its viscosity and thus eases its flow. Denufosol although still in the experimental stages facilitate the opening chloride channel which reduces the viscosity of the mucus and thus allows for its easer section of the body. , & Whitmore, G. A. A statistical model to predict one-year risk of death in patients with cystic fibrosis. Journal of clinical epidemiology, 68(11), 1336-1345. Armstrong, D. , & De Boeck, K. Searching for a cure for cystic fibrosis. A 25-year quest in a nutshell. European journal of pediatrics, 175(1), 1-8. Boyle, M. & VX09-809-102 study group. A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial.
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