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Kidney Stones and Patient’s Genetics and Epigenetics Research Paper

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The Relevance of the Patient’s Ethnicity (Genetics)

Kidney stones are hard deposits that form in the kidneys due to the accumulation of minerals such as calcium, which are found in urine. Low concentrations of citrate and excessive oxalate ions may also contribute to kidney stones. In some instances, kidney stones may form from the amino acid cystine. The development of kidney stone disease is linked to an interaction of genetic and environmental factors (Vezzoli, Arcidiacono and Citterio, 2019). The risk factors for kidney stones such as hypercalciuria, cystinuria, hypocitraturia, and primary hyperoxaluria have a genetic predisposition. Approximately 40% of people with kidney stones have a positive family history for any of these factors (University of Wisconsin, 2020). Furthermore, twin studies show heritability of more than 45% for kidney stones (nephrolithiasis) and 50% for hypercalciuria (Howles and Thakker, 2020). For these reasons, it is necessary to consider the patient’s genetics.

The Relevance of the Patient’s Diet (Epigenetics)

Diet is an important epigenetic risk factor for the development of kidney stones. Foods containing high amounts of proteins result in an increased production of uric acid and a corresponding reduction in citric acid in urine. Citrate inhibits the development of kidney stones through the formation of calcium citrate complexes thereby preventing the formation of insoluble crystals (Rodgers et al., 2019). In contrast, jello contains the amino acid hydroxyproline that is metabolized to oxalate and glycolate. High dietary intake of gelatin raises urine oxalate levels and makes it available for the formation of calcium oxalate stones, which results in kidney stones.

The Contribution of Animal Studies to the Understanding of Kidney Stones

Animal studies have made it possible to understand the etiology of kidney stones. For instance, the effect of different diets on the development of kidney stones can be studied by feeding experimental mice with varying concentrations of specific nutrients and checking for the formation of renal stones. Histological findings from animal tissues in such studies can be used to support or refute hypotheses regarding the development or treatment of renal stones. Two main theories of free-particle and fixed-particle have been proposed to explain the retention of calcium oxalate crystals, leading to the formation of kidney stones (Khan, 2017). Animal studies have contributed to the conclusion that both mechanisms cause nephrolithiasis and that certain diets increase one’s predisposition to kidney stones.

Clinical Research Studies

Clinical research studies support the conclusions made by animal studies regarding the genetic and epigenetic etiology of kidney stones. Investigations involving animals show that protein-rich diets increase the levels of oxalate and reduce citrate concentration, which increases the risk of kidney stones. Furthermore, human trials indicate that consuming plenty of fruits and vegetables and cutting down on animal protein lowers the risk for kidney stones (Ferraro et al., 2020). The influence of genetics on nephrolithiasis is demonstrated in experiments involving genetic hypercalciuric stone-forming rats (Letavernier and Daudon, 2018). However, there are certain controversies regarding the medical treatment of kidney stones between the two modes of research. Animal inquiries show that caffeic acid can dissolve kidney stones (Yasir and Choudhary, 2018). However, this chemical has not been tested in humans. Therefore, there is a need to conduct more clinical trials to ascertain the safety and efficacy of caffeic acid for the treatment of nephrolithiasis.

The Biochemistry Underlying the Development of Kidney Stones and its Resolution

The diet consumed by the patient in the case study is the key epigenetic risk factor for kidney stones. Jello contains amino acids such as proline, glycine, valine, alanine, lysine, and arginine, which are associated with kidney stones (Primiano et al., 2020). Chicken, conversely, contains the same profile of amino acids in addition to leucine. Overall, the patient consumes a high-protein diet, which promotes enhanced production of purines that are metabolized into uric acid. Elevated concentrations of uric acid are available for complex formation with calcium, hence forming kidney stones. The problem can be resolved by the administration of sodium bicarbonate or potassium citrate as urinary alkalizers. These substances increase the pH of urine and promote the dissolution of kidney stones.

Reference List

Ferraro, P. M. et al. (2020) ‘Risk of kidney stones: influence of dietary factors, dietary patterns, and vegetarian-vegan diets’, Nutrients, 12(3), pp. 1-16.

Howles, S. A. and Thakker, R. V. (2020) ‘Genetics of kidney stone disease’, Nature Reviews Urology, 17, pp. 1-15.

Khan, S. R. (2017) ‘Histological aspects of the “fixed-particle” model of stone formation: animal studies’, Urolithiasis, 45(1), pp. 75-87.

Letavernier, E. and Daudon, M. (2018) ‘Vitamin D, hypercalciuria and kidney stones’, Nutrients, 10(3), pp. 1-11.

Primiano, A. et al. (2020) A specific urinary amino acid profile characterizes people with kidney stones. Disease Markers, 2020(8848225) pp. 1-7.

Rodgers, A. et al. (2019) ‘Theoretical and laboratory investigations of the effects of hydroxyproline ingestion on the metabolic and physicochemical risk factors for calcium oxalate kidney stone formation in a small group of healthy subjects’, International Urology and Nephrology, 51(7), pp. 1121-1127.

University of Wisconsin. (2020) Genetic heritability, kidney stones. Web.

Vezzoli, G., Arcidiacono, T. and Citterio, L. (2019) ‘Classical and modern genetic approach to kidney stone disease’, Kidney International Reports, 4(4), pp. 507-509.

Yasir, F. and Choudhary, M. I. (2018) ‘Protective effect of dietary polyphenol caffeic acid on ethylene glycol-induced kidney stones in rats’, Urolithiasis, 46(2), pp. 157-166.

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