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Alport Syndrome - Medical Essay Sample

5 pages
1326 words
Carnegie Mellon University
Type of paper: 
Case study
This essay has been submitted by a student. This is not an example of the work written by our professional essay writers.

Alport syndrome is a genetic disorder that results in hearing loss, kidney disease, and eye defects on the victim. It is primarily caused by genetic mutations of type IV collagen that is present in many human tissues. Ideally, this condition is rare since in most cases it is inherited through the X-linked method and can be diagnosed based on clinical signs, testing or family history of the disease. The paper analyses various aspects relating to the Alport syndrome.

Does genetics influence policy issues? This question can be well answered by analyzing the impact of genetic privacy, regulation of genetic tests, education, and gene patenting on health care policies. Firstly, debate arises due to resurfacing of patient confidentiality as a result of gene testing. Policymakers argue that genetic revolution shifted focus from human involvement to pure genetic studies without involving the person (Botkin et al., 2015). This raised issues regarding chances of exposing someones confidentiality through genetic profiling. Similarly, queries are being raised regarding lack of education to the population about genetic tests such as their purpose and implications. This calls for enough policy legislation to be put in place to ensure gene education is conducted to the public.

Furthermore, genetic influences policy issues through regulation of genetic tests. In todays world, genetic tests are commonly used to establish paternity issues and detection of conditions like Alport syndrome (Botkin et al., 2015). However, this trend is not well regulated, and there are chances of useless tests carried out. Many tests are invalid and thus not reliable which in many instances affects the quality of gene testing. A proper policy should be developed to address this issue. Lastly, gene patenting which has created monopolies on genetic data which makes genetic tests to be expensive (Botkin et al., 2015). Policymakers should address gene patenting to reduce the genetic tests costs which are becoming inflated.

Nutritional Influences of Alport Syndrome

Nutritional influences play a significant role in causing the Alport syndrome. The primary cause of this condition is protein abnormalities due to faulty gene mutations. These proteins have different functions in the organ systems of an individual. Several genes such as COL4A3, COLA44, and COLA45 are responsible for the creation of specific chains of proteins known as collagen IV (Gross, Perin & Deltas, 2014). Deficiencies in their basement membranes cause damage hence affecting the ears, eyes, and kidneys of an individual. Too many proteins in urine cause proteinuria which can only be reduced using ACE inhibitors. This eventually reduces chances of renal failure and slows down the kidney disease.

Likewise, Alport syndrome is associated with potassium deficiency due to lack of proper diet. Renal failure is explicitly caused by lack of potassium-rich food which has low protein and salt but is rich in vitamins, plant-based proteins, and whole grains. The potassium nutrients are essential for maintaining blood pressure, acid-base balance, and regulating heart electrical conductivity. Therefore, blood potassium levels should regularly be monitored by a medical professional and patients should consume diets containing potassium minerals at daily levels (Gross et al., 2014).

Moreover, doctors frequently advise on the need to consume diets with fewer sodium nutrients. Salt intake has been linked to increased blood pressure levels that stress kidney for people suffering from Alport syndrome. In many instances, it hardens the heart and other complications which eventually leads to kidney failure. Other nutritional influences include too many fluids intake and limited renal diet thus causing the disease. Therefore, individuals are advised to avoid certain foods such as bananas, tomatoes, and dairy products to minimize phosphorous intake (Savige et al., 2013).

Nutritional Assessment and Counseling

Nutritional assessment and counseling are essential when dealing with Alport syndrome. The nutritional assessment aims to achieve nutrient intake equilibrium for the patients. Health indicators are first observed to investigate the possibilities of symptoms caused by nutrient deficiencies. In this case, common symptoms of Alport syndrome include proteins in the blood (proteinuria) and other signs like body swelling. This calls for early prevention from transforming into the end-stage renal disease. Genetic testing is firstly conducted to assess the persons food and nutrient intake as well as a lifestyle through prenatal testing and preimplantation genetic diagnosis (Savige et al., 2013). Further prevention is done through counseling on a proper nutritional diet that contains low-salt and high-fiber to prevent problems associated with renal failure and hypertension.

The nutritional assessment proceeds to screening and diagnostic stage where clinical signs are observed. In many instances, a kidney biopsy is carried out to examine occasions of glomeruli cells deviations. This process tests the presence of proteins in the urine to confirm its impacts on various organs. Prognosis is later done to understand the leading cause of the condition. Alport syndrome prognosis usually originates from the development of renal failure hence enable doctors to advise patients on the need to undergo renal replacement therapy (Gross et al., 2016). Close nutritional monitoring is commenced through frequent reviewing of hypertension, adjustment of diets, and renal functions within a specific period.

Finally, the nutritional assessment concludes by suggesting appropriate treatment and subsequent testing of its effectiveness. The treatment objective of Alport syndrome treatment is minimizing its progression through controlling blood pressure and reducing proteinuria using statins, angiotensin, and ACE inhibitors. Additionally, further nutrition check is done to ensure patients undergo dietary modifications and stick to fluid restriction. Surgery may be required in case the condition has progressed into full kidney disease and has affected both eyes and ears. To ensure full success, continuous monitoring of treatment is done over time to test the effectiveness of the treatment. Medical follow-ups are done, and nutritional education and counseling are conducted to increase coping skills which result in a full diagnosis of the condition (Savige et al., 2013).

Prevalence, Prognosis and Other Nutritional Elements of Alport Syndrome

Alport syndrome is less prevalent globally and mostly affect one person among fifty thousand people. X-linked Alport syndrome (XLAS) is common among families experiencing malnutrition and those having unhealthy lifestyles (Gross et al., 2016). Records reveal that the condition is common for people who consume unhealthy diets having too much salt and smoking which makes the body unhealthy. Individuals are required to undergo frequent nutritional tests by an accredited practicing dietician. Testing of protein in urine is essential since too many proteins cause body parts swelling and fluid retention which progresses into Alport syndrome (Savige et al., 2013). Once nutritional deficiencies are observed, the patient is placed on a non-dialysis kidney that that recommends food with a minimal amount of phosphorous, protein, and sodium. Patients are usually advised to eat fresh fruits, vegetables, cereals, and seafood. Individuals experiencing renal failure are treated using vitamin D and phosphate binders to control osteodystrophy. Other doctors recommend alkaline foods to control cases of acidosis in the body. Symptoms for women suffering from Alport syndrome is less compared to men such as hearing loss and vision abnormalities. However, lack of balanced diet in both genders causes this condition which may progress to end-stage renal disease (ESRD) (Gross et al., 2016). Therefore, nutritional balance is recommended to reduce instances of irregular mutation of genes.


Botkin, J. R., Belmont, J. W., Berg, J. S., Berkman, B. E., Bombard, Y., Holm, I. A., ... & Wilfond, B. S. (2015). Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. The American Journal of Human Genetics, 97(1), 6-21.

Gross, O., Kashtan, C. E., Rheault, M. N., Flinter, F., Savige, J., Miner, J. H., ... & Perin, L. (2016). Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome. Nephrology Dialysis Transplantation, 32(6), 916-924.

Gross, O., Perin, L., & Deltas, C. (2014). Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS blockade and the horizon of future therapies. Nephrology Dialysis Transplantation,124-130.

Savige, J., Gregory, M., Gross, O., Kashtan, C., Ding, J., & Flinter, F. (2013). Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. Journal of the American Society of Nephrology, 24(3), 364-375.


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