Cystic fibrosis Disease
Cystic fibrosis is a hereditary illness that attacks the secretory glands. The disease affects mucus as well as sweat glands. Cystic fibrosis affects the internal organs, including intestines, lungs, liver, pancreas, and sinuses(Stöppler). The disease occurs because of gene mutation on chromosome 7 of the CF gene. The genes encode a protein called cystic fibrosis transmembrane regulator (CFTR)(Stöppler). The patients with CF experience disruption of the channels of chloride on cells due to abnormal CFTR protein. CF get categorized with abnormal production of mucus, which is excessively sticky and thick(Stöppler). Lung failure occurs in children with CF, which leads to permanent lung damage with time. The CFTR genes get inherited from parents. Each person has two CFTR genes where one is from each parent(Stöppler). Therefore, those children who inherit abnormal CFR genes will suffer from Cystic fibrosis while those who inherit one abnormal CFTR gene and one good CFTR gene will become “CF careers.” Careers have no signs and symptoms yet they can pass the abnormal gene to the next generation.
Signs and symptoms
A patient suffering from cystic fibrosis disease can show a variety of symptoms and signs of the disease. During the first stages, patient skin may taste very salty. In the respiratory parts, the patients will experience prolong cough with phlegm, lungs infections frequently such as pneumonia and bronchitis (Mayo clinic). In addition, the patient also experiences shortage of breath, whichgives them difficult during breathing in and out.
Furthermore, stunted growth, poor weight gain even though the person has a good appetite is one of the symptoms that can get seen from the people suffering from the disease. Other symptoms include, cause of the male infertility, bulky tools that are usually accompanied with a frequent greasy or sometimes causing a difficulty with the bowel’s movements (Mayo clinic). Thus, cystic fibrosis symptoms being classified in two major categories depending on the part namely digestive and respiratory symptoms.
Diagnosis and Treatment
For proper treatments of a cystic fibrosis, the doctors contact diagnoses the patient physically check all the symptoms shown by the patient shows then conduct some tests (Mayo clinic). However, the doctors conduct tests in two processes, for the new born and the old babies. For the new born, the diagnosis process take place immediately such that the disease can be treated early. However, diagnosis process can be conducted in three main ways. First, doctors can conduct a screen test by taking the blood samples such that they can test if immunoreactive trypsinogen the chemicals that is released by pancreases is higher than the normal level. Though the new-born children have a high IRT due to premature deliveries, other tests will be conducted to verify the diagnosis. The second test is sweat test, where the sweat of 2 weeks old baby is taken and tested if the saltiness is normal (Mayo clinic). Lastly, the doctors may conduct genetic test of the specific gene that is responsible for the disease. Hence, the test can be used in verifying the IRT. Also, the doctor can recommend either genetic or a sweat test to diagnose the symptoms of the cystic fibrosis.
There is no certain cure for CF though treatment and management methods have improved greatly in the present time. The prognosis goals of CF target at controlling and preventing the infections of the lungs, providing sufficient nutrition removal of sticky and thick mucus from the lungs and removal of blockages along the intestines(Stöppler). Some treatment methods such as chest physical therapy can get employed in fighting Cystic fibrosis (Stöppler). Medicines and exercises can also be helpful.
The prognosis of CF gets done by the registry of factors, which cause higher mortality of the disease. The greater risk mortality is evident in females, non-whites, and those with gastrointestinal and respiratory symptoms(Shaffer and Liji). The patients who are homozygous in the genotype for the mutation of delF508 show higher mortality than those that are heterozygous(Shaffer and Liji).
Mayo clinic. “About Cystic Fibrosis.” Cystic Fibrosis Foundation | CF Foundation, 14 Mar. 2020, www.cff.org/What-is-CF/About-Cystic-Fibrosis/. Accessed 6 May 2020.
Shaffer, C., and T. Liji. “Cystic Fibrosis Prognosis.” News-Medical.net. N.p., 26 Feb. 2019. Web. 6 May 2020. <https://www.news-medical.net/health/Cystic-Fibrosis-Prognosis.aspx>.
Stöppler, M. C. “What Is Cystic Fibrosis? Symptoms, Treatment & Life Expectancy.” MedicineNet. N.p., 7 June 2018. Web. 6 May 2020. <https://www.medicinenet.com/cystic_fibrosis/article.htm#what_is_the_outlook_for_cystic_fibrosis>.
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