Kate is born with features that do not look quite normal. Her eyes are wide-set and slightly slanted. Her nose is short and flat, and she keeps her mouth slightly open. There is a straight crease across her palm, and her fifth digit is unusually short. The doctor tells her parents she has an inherited disorder. If you were the doctor what would you diagnosis Kate with?
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Essays: (at least 300 words per prompt)
1. Kate is born with features that do not look quite normal. Her eyes are wide-set and slightly slanted. Her nose is short and flat, and she keeps her mouth slightly open. There is a straight crease across her palm, and her fifth digit is unusually short. The doctor tells her parents she has an inherited disorder. If you were the doctor what would you diagnosis Kate with? Discuss the etiology of Kate’s disorder? What is the biggest risk factor for this disorder? How can or will this disorder affect Kate? What test could have been completed to diagnosis this disorder before Kate’s birth?
2. Research one autosomal dominant disease, one autosomal recessive disease, and a sex-linked disease. For each disease discuss: 1. Etiology, 2. Signs and Symptoms, 3. Diagnosis, 4. Treatment and Prevention. Provide additional information from an outside source.
3. A 12-year-old child experiences high fever and chills. He also says that his heart feels like its pounding. Two weeks before these symptoms, the child fell off his bike and skinned his knee. This child also has a history of a heart murmur. What disease should be considered and what is the treatment? What congenital heart disease is associated with heart murmurs?
4. A 59-year-old male calls the paramedics after experiencing an episode of chest pain while shoveling snow. He describes his pain as a crushing, tight feeling that radiates to his left arm and jaw. What type(s) of heart disease is this patient experiencing (explain)? What diagnostic test would you expect the physician to order and why? What is the treatment?
SAMPLE STUDENT ANSWER
Genetic Disorders
Most diseases are caused by bacteria and other germs. However, other diseases are a result of genetic mutation. Gene mutation is described as the transformation of one or more genes (Kaplanis et al., 2020). Some mutations are often beneficial. They include things like resistance to HIV, rich color vision, and lactose tolerance. However, when the mutations cause abnormalities to one’s genetic makeup, the individual will most likely develop a genetic disorder.
Most common genetic disorders include hemophilia, sickle cell anemia, Down syndrome, cystic fibrosis, and Huntington’s disease (Kaplanis et al., 2020). Some of these genes are inherited while others are not. This essay has discussed various genetic disorders, their etiology, symptoms, treatment, and prevention.
Kate’s Case: Down Syndrome
Based on the features Kate was born with, the doctor would most likely diagnose her with down syndrome. Down syndrome is a disorder caused by cell division mistake that occurs when the abnormal division of cells leads to an extra partial or full copy of chromosome 21. The extra genetic material is associated with physical and developmental changes and features reported in people with down syndrome. De Cauwer and Spaepen (2021) noted that the disorder can be caused by a process known as nondisjunction of germ cells.
This process often produces germ cells with either nullisomy or disomy copies of a specific chromosome in this case chromosome 21. Down syndrome occurs when the germ cell with an extra chromosome is attached to a normal chromosome. The disorder also occurs when the nondisjunction happens in the zygote and not the germ cell. Lastly, the disorder can occur during translocation during meiosis. During the process, chromosomes can break and fuse with other chromosomes during meiosis leading to trisomy 21. The disease has many risk factors.
However, biggest risk factor is giving birth at an advanced age. De Cauwer and Spaepen (2021) reported that women having a baby when they are 35 years and above risk conceiving a child with down syndrome. Another risk factor is being carriers of trisomy 21, the genetic translation for the disorder. This genetic translocation can be passed to children by both parents. Lastly, parents with a child with down syndrome are more likely to give birth to another child with the disorder. Kate will have many health complications due to her present condition.
De Cauwer and Spaepen (2021) argued that a person with down syndrome might develop heart problems, leukemia, immune disorders, and gastrointestinal defects. The nuchal translucency screening test is to screen for the disorder before Kate is born. This test will screen the back of the baby for more fluids.
Autosomal Dominant Disease, Autosomal Recessive Disease, and Sex-Linked Disease
Genetic disorders can be categorized into various groups based on their etiology. Some genes are dominant, recessive, while others are sex-linked. In this section, the categories of genetic disorders have been discussed.
Autosomal dominant disease
The first category is autosomal dominant disease. An example of autosomal dominant disease is Huntington’s disease. The disease is inherited and causes progressive degeneration of the brain nerve cells. The etiology of the disease is an inherited defect in a particular gene (Barnat et al., 2020). One needs only a single copy of the defective gene to have the disorder because it is an autosomal dominant disease. The symptoms of the disease include chorea, dystonia, abnormal eye movement, social withdrawal, irritability, and cognitive problems.
The disease is diagnosed through neuropsychological testing, neurological examination, braining imaging using a CT scan, and psychiatric evaluation. There is no cure for the disorder. However, its symptoms can be suppressed using medications and psychotherapy. This disease cannot be prevented once inherited. However, parents can prevent their children from having the diseases by considering Vitro fertilization and preimplantation.
Autosomal recessive disease
The second category is autosomal recessive disease. Sickle cell anemia is an example of autosomal recessive disease. Sickle cell anemia is an inherited disorder that causes abnormal red blood cells leading to less supply of oxygen in the body. The disease occurs when a gene mutation produces abnormal hemoglobin which makes the red blood cells sticky and rigid (Kaiser et al., 2018). Both parents must pass the sickle cell train for one to develop the disorder. The symptoms of the disease include frequent infections, swelling of feet and hands, anemia, vision problems, and delayed growth at puberty.
The disorder can be diagnosed using a blood test to screen for the defective gene. Sickle cell anemia also has no cure. However, the FDA approved Oxbryta to be used in treating anemia and Adakveo to decrease pain in people with sickle cell anemia. The disorder can be prevented by seeing a genetic counselor before having a child. If two partners risk giving birth to a child with sickle cell anemia, they can be advised on other reproductive options.
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Sex-linked disease
The last category is sex-lined disease. An example of sex-linked disease is Duchenne muscular dystrophy (DMD). It is caused by a mutation in one of the mother’s genes (McDonald et al., 2018). The disease causes progressive muscle weakness and degeneration by altering dystrophin, a protein that is known for keeping muscles intact. It is passed by a mother to a boy child. Its symptoms include muscle weakness, lumbar lordosis, a waddling gait, and enlargement of calves.
The disease is diagnosed by performing a physical exam on the musculoskeletal system, ordering a creatine kinase level, genetic testing, and muscle biopsy (McDonald et al., 2018). Similar to the other two conditions, DMD has no cure. Medications are meant to improve the life of patients with the condition. The patient can be given braces for movements and cardiac care. DMD can be prevented by taking genetic testing and seeing a counselor before conceiving.
Congenital Heart Disease
Based on the patient’s medical history and subjective symptoms, he might have chronic infective endocarditis (IE). IE is an infection caused by bacteria entering the bloodstream to the blood vessel, heart valve, or heart lining (Nakatani et al., 2019). The patient might have been infected after skinning his knee. The symptoms of the disease include chills, fever, fatigue, new heart murmur, shortness of breath, and pounding heart. The disease also causes chest pain.
The patient should be hospitalized and placed on high dosage antibiotics. Nakatani et al. (2019) noted that a patient with IE can be treated using Gentamicin. The patient can be prescribed 2 to 3 mg/kg, once daily. This medication can help fight the infection and reduce fever and chills. If the patient has a serious heart problem due to the infection, he or she can be taken through surgery to improve heart function (Nakatani et al., 2019).
A congenital heart disease that is linked with heart murmurs is a ventricular septal defect. A ventricular septal defect (VSD) is a birth congenital heart defect where is a hole in the ventricular septum, a structure that separates the heart ventricles (Dakkak & Oliver, 2021). This defect occurs during pregnancy in an instance when the septum is not fully developed. Blood flows from the left ventricle through the septal hole to the lungs and the right ventricle in children with ventricular septal defects (Dakkak & Oliver, 2021).
The extra blood pumped into the lungs and heart forces these organs to work harder. If note repaired, the child might risk complications, such as high blood pressure, pulmonary hypertension, heart failure, arrhythmia, or stroke. The cause of this disease is unknown, however, Dakkak and Oliver (2021) reported that it might be caused by chromosomes or gene changes. Drinking alcohol while pregnant is also a risk factor for VSD.
Angina Pectoris
The patient would be diagnosed with angina pectoris. Münzel and Daiber (2018) argued that angina pectoris is a heart problem caused by myocardial ischemia, a disease triggered by an imbalance between oxygen demand and myocardial blood supply. The authors also noted that angina pectoris is a coronary heart disease symptom. The main symptom of the disease is angina pectoris. The other symptoms of the disease include nausea, sweating fatigue, shortness of breath, and dizziness. The patient is said to have angina pectoris because he feels chest pain that radiates to his jaw and arm. Jensen et al. (2018) also noted that chest pain often develops when one is working their heart hard. The patient felt the pain when shoveling snow.
The physician would be expected to order three tests when diagnosing the patient. One of the tests is coronary angiography. According to Jensen et al. (2018), a physician can use coronary angiography to screen and check the blood vessels in the patient’s heart. The authors found that the tool is a valid screening method for the disease. The second tests are the blood test. Blood tests can be used to screen for heart enzymes that have leaked into the patient’s blood. The last test is a nuclear stress test. This test will help the physician test the patient’s stress level during stress and at rest (Dasgupta et al., 2018).
A radioactive substance is often used during this test. The physician injects a radioactive substance into the patient’s bloodstream before the test. The disease can be treated using nitrates. According to Münzel and Daiber (2018), nitrates improve the symptoms of widening and relaxing a patient’s blood vessels to allow more blood to enter the heart muscles. The authors recommend that nitroglycerin tablets should be prescribed to the patient to help him with the pain.
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Summary
The essay has discussed various genetic and genetic-linked disorders. One of the diseases discussed is down syndrome. Down syndrome is a disorder where a person has an extra chromosome 21. The disease occurs when nondisjunction happens in the zygote and during meiosis through a process known as translocation. In most cases, down syndrome is not inherited. The second genetic disease discussed in the essay is Huntington’s disease. The disease occurs when a person inherits a defective gene. Any person with the defective gene has the disorder. The third disease is sickle cell anemia. This disease is a genetically inherited gene.
However, both parents must have the recessive sickle cell trait for a person to have the disorder. The last genetic disorder is DMD. This disease is also inherited. The difference between this disease and the others, it affects only men. Women are carriers. Apart from genetic disorders, heart diseases have also been discussed in the essay. The diseases include ventricular septal defect and angina pectoris. The two diseases affect the heart but are from different categories. For instance, angina pectoris is a coronary heart problem while ventricular septal defect s a birth defect. Both diseases can be life-threatening if not treated on time.
Conclusion
Genetics is a significant subject in advanced nursing. It helps advanced nurses understand various disorders caused by genetic mutations. In the assignment, various genetic disorders have been discussed. The diseases include Huntington’s disease, down syndrome, DMD, sickle-cell anemia, IE, VSD, and angina pectoris. Though these diseases are connected genetically, they have difference characteristics. For instance, down syndrome is a genetic disorder caused by gene mutation. It is not necessarily inherited. Huntington’s disease is an autosomal dominant disorder meaning that any person with abnormal gene from any parent will most likely get the disorder. In DMD, the genes responsible for the disorder are in the X chromosomes.
References
Barnat, M., Capizzi, M., Aparicio, E., Boluda, S., Wennagel, D., Kacher, R., … & Humbert, S. (2020). Huntington’s disease alters human neurodevelopment. Science, 369(6505), 787-793. https://doi.org/10.1126/science.aax3338
Dakkak, W., & Oliver, T. I. (2021). Ventricular septal defect. StatPearls [Internet]. https://www.ncbi.nlm.nih.gov/books/NBK470330/
Dasgupta, S., Stark, M., Bhatt, S., Fischbach, P., & Deshpande, S. (2018). The utility of combined cardiopulmonary exercise stress testing in the evaluation of pediatric patients with chest pain. Congenital Heart Disease, 13(6), 1058-1063. https://doi.org/10.1111/chd.12681
De Cauwer, H., & Spaepen, A. (2021). Are patients with Down syndrome vulnerable to life-threatening COVID-19?. Acta Neurologica Belgica, 121(3), 685-687. https://link.springer.com/article/10.1007/s13760-020-01373-8
Food and Drug Administration. (n.d). FDA approves drug to treat sickle cell disease in patients aged 4 up to 11 years. https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-drug-treat-sickle-cell-disease-patients-aged-4-11-years
Jensen, J. M., Bøtker, H. E., Mathiassen, O. N., Grove, E. L., Øvrehus, K. A., Pedersen, K. B., … & Nørgaard, B. L. (2018). Computed tomography derived fractional flow reserve testing in stable patients with typical angina pectoris: influence on downstream rate of invasive coronary angiography. European Heart Journal-Cardiovascular Imaging, 19(4), 405-414. https://doi.org/10.1093/ehjci/jex068
Kaiser, M., Jug, F., Julou, T., Deshpande, S., Pfohl, T., Silander, O. K., … & Van Nimwegen, E. (2018). Monitoring single-cell gene regulation under dynamically controllable conditions with integrated microfluidics and software. Nature Communications, 9(1), 1-16. https://www.nature.com/articles/s41467-017-02505-0
McDonald, C. M., Henricson, E. K., Abresch, R. T., Duong, T., Joyce, N. C., Hu, F., … & McDonald, C. M. (2018). Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: A prospective cohort study. The Lancet, 391(10119), 451-461. doi:10.1016/S0140-6736(17)32160-8
Münzel, T., & Daiber, A. (2018). Inorganic nitrite and nitrate in cardiovascular therapy: A better alternative to organic nitrates as nitric oxide donors? Vascular Pharmacology, 102, 1-10. https://doi.org/10.1016/j.vph.2017.11.003
Nakatani, S., Ohara, T., Ashihara, K., Izumi, C., Iwanaga, S., Eishi, K., … & Japanese Circulation Society Joint Working Group. (2019). JCS 2017 guideline on prevention and treatment of infective endocarditis. Circulation Journal, 83(8), 1767-1809. https://www.jstage.jst.go.jp/article/circj/83/8/83_CJ-19-0549/_pdf
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