Newborn screening for cystic fibrosis

Newborn screening for cystic fibrosis

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Introduction
Cystic fibrosis (CF) refers to an inherited problem of the mucus glands. Mucus is a substance that is usually secreted by the body to cover the digestive system, lungs, and reproductive system as well as other tissues and organs. CF makes the body release excessive mucus that is extremely thick and sticky, which can cause various health issues. Among these health issues are difficulty in coughing, chest repetitive infections, lengthy diarrhea and deprived gain of weight. If the condition is not treated on time, it can cause extensive complications that may lead to early death. Nevertheless, if the condition is identified early and the child is exposed to proper treatment, the symptoms of CF are controllable and children may live longer. Different authors have different views on CF as they all try to get into a conclusion on how the health condition should be resolved. Since CF is inherited, the defective gene must be passed from both of the parents to the child in order to acquire the disease. In case a faulty gene is inherited, the child becomes a carrier. Actually, carriers of cystic fibrosis do not have the disease, but they can pass it to other individuals. Today, there are many theories on how to improve the treatment process, as well as challenges that can arise when providing medical care.

Literature Review
According to Norm Brown (2009), the gene responsible for CF was identified and it was named Cystic Fibrosis Trans-membrane Conductance Regulator (CFTR). He introduced sweat testing which brought in the non-invasive diagnosis, which was considered as gold standard for CF testing. He suggested proper screening of children after birth to prevent the spread of the disease (Vanzo, 2009). According to the research carried out by NBS (Wilson et al., 2015), CF patients have better pulmonary function in later childhood than the patients diagnosed after clinical symptoms or CF patients who had meconium ileus. The diagnostics can also be carried out with help of the sweat chloride testing (Wilson et al, 2015). Although, Norm believes the disease is genetic (Peebles, 2005), and argues that the disease may develop because of a certain lifestyle, and living in extremely cold and stuffy areas can cause the disease. Scientists also suggest proper screening for children to avoid the conditions of the disease which may not be discovered from genetic identification (Elborn et al., 2000).
In further discussion, Giddings (2009) argues that CF is usually incurable if it is not treated early enough. At some point, the problem may not be noted very fast in a way that the family would call for first response by the doctor. He also argues that the accumulation of mucus in the lungs continues to make the situation even worse. The argument is supported by Orenstein, Spahr and Weiner (2012), who state that the mucus becomes infectious once it starts accumulating in the lungs and other organs. As a result, other complications may develop rendering the organs irresponsive to medication and the necessary treatment (Wolter et al., 2002). As such, the authors suggest that it is better to treat the disease earlier, which calls for families to be on the look to the symptoms of the disease.
According to Munson and Traister (2005), there are a number of challenges that come with the CF disease. They argue that identifying the disease is a major difficulty, as many patients may not notice the signs of the disease at early stages. Thus, they support the use salt test, which is highly effective in identifying the problems related to the CF condition. Further, Acton (2013) suggests that the challenge is not performing the test, but the identification of the condition at the early stage. He argues that it is easier to treat the disease at its early stage in comparison to the acute stage.
It is also suggested that screening for cystic fibrosis should be done through proper evaluation of the postural drainage system (Pryor et al., 1979). The method is highly effective in screening and helps in identifying traces of mucus that may exist in the drainage. Further, Kerem and Eitan (2008) suggested that PTC124 can be a major treatment for cystic fibrosis. It is highly effective when the disease is detected at an early stage. Therefore, proper screening is required as per the suggestion given by Kerem and Eitam (2008). On the other hand, Hofmeyr suggested the use of positive expiratory pressure as the method of treatment (1986). This method works in a similar way to the chest physiotherapy and ensures effective screening of the cystic fibrosis condition (Orenstein et al., 1977). Therefore, authors conclude that screening is the best solution to preventing the prevalence of cystic fibrosis.
Moss and Richard introduced an deep research on the proper treatment for cystic fibrosis (2007). They recommend repetitive aerosolized AAV-CFTR, which is usually controlled by the level of screening that one has been subjected to during the treatment period. The treatment is well known as it is able to eliminate a good percentage of the mucus found in the digestion system. McAleer (2006) supports the process by defining it as a reliable technique to ensure that cystic fibrosis patients are healed. It is also supported as a therapy that may be practiced in a community setup. It is actual and highly reliable to offer the necessary knowledge concerning the existence of the disease. Conway suggested that the screening process should be done immediately when a child is born (2003). It gives an opportunity to ensure the child has no signs of the disease. The screening process in this case is highly reliable and offers support to a number of treatments like AAV-CFTR and PTC124.
Frederiksen (1997) offers the possible prevention for cystic fibrosis. The method offered prevents chronic infection by preventing the spread of the disease. It also cures the condition during its primary stages. However, the treatment cannot be offered to all family members to prevent the occurrence of the disease. Aerts suggests that the treatment of the disease can be based on preventive measures that ensure the disease does not survive in the body of a child (2013). McIlwaine (1997) suggests a reasonable process of treating the disease by ensuring that proper methods are used in the treatment process. As such, he suggests the postural drainage and percussion and positive expiratory pressure physiotherapy.
In conclusion, an inherited problem of the mucus glands, known as Cystic fibrosis, is a disease that can cause numerous health issues. Thus, it is of the greatest importance to notice the signs of the disease and provide an early treatment. If cystic fibrosis is diagnosed at the early stage, a chance to provide an effective treatment is significantly higher. Today, scientists are working on improving the process of treatment of this disease, and there are many theories how to treat this disease effectively.

Works Cited
Acton, Ashton. Cystic Fibrosis: New Insights For The Healthcare Professional: 2013 Edition. Atlanta: Scholarly Editions, 2013. Print.
Aerts, Johannes Maria Franciscus Gerardus, and Rolf Gabriel Boot. “Treatment of cystic fibrosis.” U.S. Patent No. 8,410,081. 2 Apr. 2013.
Conway, S. “Osteoporosis Is Cystic Fibrosis”. Journal of Cystic Fibrosis 2.4 (2003): 161-162. Web.
Elborn, J. S., et al. “Elective versus symptomatic antibiotic treatment in cystic fibrosis patients with chronic Pseudomonasinfection of the lungs.” Thorax 55.5 (2000): 355-358.
Frederiksen, Birgitte, Christian Koch, and Niels Høiby. “Antibiotic treatment of initial colonization with Pseudomonas aeruginosa postpones chronic infection and prevents deterioration of pulmonary function in cystic fibrosis.” Pediatric pulmonology 23.5 (1997): 330-335.
Giddings, Sharon. Cystic Fibrosis. New York: Chelsea House, 2009. Print.
Hofmeyr, J. L., B. A. Webber, and M. E. Hodson. “Evaluation of positive expiratory pressure as an adjunct to chest physiotherapy in the treatment of cystic fibrosis.” Thorax 41.12 (1986): 951-954.
Kerem, Eitan. “Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial.” The Lancet372.9640 (2008): 719-727.
McAleer, R.D. “346 Community Physiotherapy For Newly Diagnosed Infants With Cystic Fibrosis (Newborn Screening) “. Journal of Cystic Fibrosis 5 (2006): S76. Web.
McIlwaine, P. Maggie. “Long-term comparative trial of conventional postural drainage and percussion versus positive expiratory pressure physiotherapy in the treatment of cystic fibrosis.” The Journal of pediatrics. 131.4 (1997): 570-574.
Moss, Richard B. “Repeated aerosolized AAV-CFTR for treatment of cystic fibrosis: a randomized placebo-controlled phase 2B trial.” Human gene therapy 18.8 (2007): 726-732.
Munson, Carol, and Rob Traister. Pathophysiology. Print.
Orenstein, David M., Jonathan E. Spahr, and Daniel J. Weiner. Cystic Fibrosis. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins, 2012. Print.
Orenstein, David M. “The effect of early diagnosis and treatment in cystic fibrosis: a seven-year study of 16 sibling pairs.” American Journal of Diseases of Children. 131.9 (1977): 973-975.
Peebles, Allison. Cystic Fibrosis Care. Edinburgh: Elsevier Churchill Livingstone, 2005. Print.
Pryor, J. A. “Evaluation of the forced expiration technique as an adjunct to postural drainage in treatment of cystic fibrosis.” BMJ 2.6187 (1979): 417-418.
Vanzo, Rena. ‘Newborn Screening & Cystic Fibrosis’. Utah Department of Health. – Newborn Screening Program. 1.1. (2009): 1-5. Print.
Wilson, William, Christie Jett, and Deborah Froh. “Two-Tier Newborn Screening for Cystic Fibrosis”. Department of Pediatrics, University of Virginia School of Medicine 1.1 (2015): 1-36. Print.
Wolter, J. “Effect of long term treatment with azithromycin on disease parameters in cystic fibrosis: a randomised trial.” Thorax 57.3 (2002): 212-216.

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