Aspectos genéticos e ambientais na etiologia da nefrolitíase
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Sep 30, 2023
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Resumo
Objetivo: Avaliar os fatores genéticos e ambientais associados à Nefrolitíase (NL). Métodos: Revisão integrativa, delineada pela estratégia PICO, o levantamento foi feito nas bases MEDLINE e PUBMED. Utilizaram-se os descritores: "Nephrolitiasis", "Genetics", "Diet" e "Exercises”. Os critérios de inclusão foram: artigos na íntegra, nos últimos 5 anos, com metodologia de acordo com o objetivo proposto. Foram apurados 92 artigos e 23 foram selecionados. Resultados: Observou-se que o Índice de Massa Corporal (IMC) elevado e a alta ingestão de cálcio e proteínas aumentam o risco de NL, enquanto a dieta DASH (Abordagem dietética para interromper a hipertensão), frutas e vegetais, reduzem o risco. O consumo de bebidas alcoólicas ora foi apontado como protetor, ora como fator de risco. Foram relacionados à NL as doenças tireoidianas, cardiovasculares, metabólicas e acidose tubular renal e os genes e polimorfismos: rs1056628 e C1562T: gene MMP9, rs6776158 e rs7627468: gene CaSR, rs35747824: gene PDILT, rs6667242 e rs1256328: gene ALPL, rs1544935 em KCNK5, rs7328064 em DGKH, rs13041834 em BCAS1, rs182089527: gene PDE1A, e os genes alfa-2-MRAP, TCF7L2, GSTM1, GSTT1. Considerações finais: Considera-se que tanto os fatores genéticos quanto os ambientais influenciam de maneira significativa o desenvolvimento da NL.
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BelchiorL. R., Barros FilhoM. B. de, ResendeL. L., FerreiraL. N., MoraesL. F. M., Fonseca NetoH. F. da, CordeiroJ. A. B. L., OliveiraM. V. P. de, Vilanova-CostaC. A. S. T., & SilvaA. M. T. C. (2023). Aspectos genéticos e ambientais na etiologia da nefrolitíase. Revista Eletrônica Acervo Saúde, 23(9), e13768. https://doi.org/10.25248/reas.e13768.2023
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Referências
1. ALEXANDER RT, et al. Kidney Stones and Cardiovascular Events: A Cohort Study. Clin. J. Am. Soc. Nephrol. 2014; 9(3): 506-12.
2. ALYAMI MB, et al. Influence of BMI on the Recurrence Rate of Nephrolithiasis in the Adult Population of Saudi Arabia: A Retrospective Study. Cureus. 2023; 15(1): e33539.
3. BAI S, et al. Prospective comparison of extracorporeal shock wave lithotripsy versus flexible ureterorenoscopy in patients with non–lower pole kidney stones under the COVID-19 pandemic. Urolithiasis. 2023; 51(1): 38.
4. BALASUBRAMANIAN, P, et al. Empagliflozin and Decreased Risk of Nephrolithiasis: A Potential New Role for SGLT2 Inhibition? The Journal of Clinical Endocrinology and Metabolism. 2022; 107(7): e3003-e3007.
5. BU Q, et al. A polymorphism in the 3’-untranslated region of the matrix metallopeptidase 9 gene is associated with susceptibility to idiopathic calcium nephrolithiasis in the Chinese population. The Journal of International Medical Research. 2020; 48(12): e300060520980211.
6. CAMARGO I, et al. O hiperparatireoidismo primário como causa de litíase renal. Brazilian Journal of Health Review. 2021; 4(6): 28118–28127.
7. CAO B, et al. Pediatric Nephrolithiasis. Healthcare. 2023; 11(4): 552.
8. CARDOSO A, et al. A prevenção primária da nefrolitíase por meio de mudanças no estilo de vida: revisão de literatura. Brazilian Journal of Health Review. 2021; 4(2): e6987–6994.
9. CHEN H, et al. Prediction of the Uric Acid Component in Nephrolithiasis Using Simple Clinical Information about Metabolic Disorder and Obesity: A Machine Learning-Based Model. Nutrients. 2022; 14(9): e1829.
10. D'AMBROSIO V, et al. Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis. Kidney Blood Press Res. 2021; 46(4): 469-474.
11. DEVARAJAN A. Cross-talk between renal lithogenesis and atherosclerosis: an unveiled link between kidney stone formation and cardiovascular diseases. Clinical Science. 2018; 132(6): e615-626.
12. FERRARO PM, et al. Risk of Kidney Stones: Influence of Dietary Factors, Dietary Patterns, and Vegetarian-Vegan Diets. Nutrients. 2020; 12(3): e779.
13. GE YC, et al. Characteristics of genotype of monogenic nephrolithiasis in Chinese pediatric patients with nephrolithiasis. 2021; 101(38): 3115-3120.
14. HOU J, et al. Association of sirtuin 1 gene polymorphisms with nephrolithiasis in Eastern chinese population. Renal Failure. 2019; 41(1): 34-41.
15. HOWLES SA e THAKKER RV. Genetics of kidney stone disease. Nature Reviews Urology. 2020; 17(7): e407-421.
16. HUANG L, et al. Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort. Mol Genet Genomics. 2022; 297(4): 1049-1061.
17. IBRAHIM YA e WISEMAN OJ. Quality of life in patients with kidney stones. Archivos Espanoles De Urologia. 2021; 74(1): 135–144.
18. ICER MA, et al. Can urine osteopontin levels, which may be correlated with nutrition intake and body composition, be used as a new biomarker in the diagnosis of nephrolithiasis? Clinical Biochemistry. 2018; 60: e38-43.
19. INJEYAN M, et al. Hydration and Nephrolithiasis in Pediatric Populations: Specificities and Current Recommendations. Nutrients. 2023; 15(3): e728.
20. KARI JA, et al. Childhood nephrolithiasis and nephrocalcinosis caused by metabolic diseases and renal tubulopathy: A retrospective study from 2 tertiary centers. Saudi Med J. 2022, 43(1): 81-90.
21. KETTELER M, et al. Risk of Nephrolithiasis and Nephrocalcinosis in Patients with Chronic Hypoparathyroidism: A Retrospective Cohort Study. Advances in Therapy. 2021; 38(4): 1946-1957.
22. KOVACEVIC L, et al. Urinary proteomics reveals association between pediatric nephrolithiasis and cardiovascular disease. Int Urol Nephrol. 2018; 50(11): 1949-1954.
23. LEONE A. et al. Adherence to the Mediterranean Dietary Pattern and Incidence of Nephrolithiasis in the Seguimiento Universidad de Navarra Follow-up (SUN) Cohort. American Journal of Kidney Diseases: The Official Journal of the National Kidney Foundation. 2017; 70(6): 778-786.
24. LI H, et al. Calcium-sensing receptor gene polymorphism (rs7652589) is associated with calcium nephrolithiasis in the population of Yi nationality in Southwestern China. Annals of Human Genetics. 2018; 82(5): 265-271.
25. LIMA M, et al. Associação entre litíase renal e fatores de risco cardiovascular. Revista Ciências da Saúde. 2023; 119.
26. LIN BB, et al. Dietary and lifestyle factors for primary prevention of nephrolithiasis: a systematic review and meta-analysis. BMC nephrology. 2020; 21(1): 267.
27. MADDAHI N, et al. The association of Dietary Approaches to Stop Hypertension-style diet with urinary risk factors of kidney stones formation in men with nephrolithiasis. Clinical nutrition ESPEN. 2020; 39: 173-179.
28. MADDAHI N, et al. The association of dietary inflammatory index with urinary risk factors of kidney stones formation in men with nephrolithiasis. BMC research notes. 2020; 13(1): 373.
29. MAYANS L. Nephrolithiasis. Primary Care. 2019; 46(2): 203–212.
30. MEHDE AA, et al. Association of MMP-9 gene polymorphisms with nephrolithiasis patients. Journal of Clinical Laboratory Analysis. 2018; 32(1): e22173.
31. MEHDE AA, et al. Determination of alpha-2-MRAP gene polymorphisms in nephrolithiasis patients. International Journal of Biological Macromolecules. 2017; 105(1): 1324-1327.
32. MEHDI WA, et al. Genetic polymorphisms of human transcription factor-7 like 2 (TCF7L2), β-defensin (DEFB1) and CD14 genes in nephrolithiasis patients. Int J Biol Macromol. 2018; 15(118): 610-616.
33. MIAH T e KAMAT D. Pediatric Nephrolithiasis: A Review. Pediatric Annals. 2017; 46(6): e242–e244.
34. PAGE MJ, et al. The PRISMA 2020 statement: updated guideline for reporting systematic reviews. Panamerican Journal of Public Health. 2023; 46(10): e112.
35. REINER AP, et al. Kidney stones and subclinical atherosclerosis in young adults: the CARDIA study. The Journal of Urology. 2011; 185(3): 920-5.
36. RULE AD, et al. Kidney stones associate with increased risk for myocardial infarction. Journal of the American Society of Nephrology: JASN. 2010; 21(10): 1641-4.
37. SANTOS FMD, et al. Metabolic investigation in patients with nephrolithiasis. Einstein (São Paulo). 2017; 15(4): 452-456.
38. SIENER R. Nutrition and Kidney Stone Disease, Nutrients. 2021; 13(6): e1917.
39. SILVA BC. Skeletal and nonskeletal consequences of hypoparathyroidism. Archives of Endocrinology and Metabolism. 2022; 66(5): 642-650.
40. SINGH P, et al. The genetics of kidney stone disease and nephrocalcinosis. Nature Reviews. Nephrology, 2022; 18(4): 224–240.
41. STAMATELOU K, GOLDFARB DS. Epidemiology of Kidney Stones. Healthcare. 2023; 11(3): 424.
42. TICINESI A, et al. Understanding the gut-kidney axis in nephrolithiasis: an analysis of the gut microbiota composition and functionality of stone formers. Gut. 2018; 67(12): 2097-2106.
43. TRINCHIERI A, et al. Anthropometric variables, physical activity and dietary intakes of patients with uric acid nephrolithiasis. Urolithiasis. 2020; 48(2): 123-129.
44. WANG K, et al. Risk factors for kidney stone disease recurrence: a comprehensive meta-analysis. BMC Urology. 2022; 22(1): 62.
45. WANG L, et al. Genetic Variants Involved in the Crystallization Pathway Are Associated with Calcium Nephrolithiasis in the Chinese Han Population. Genes. 2022; 13(6): 943.
46. YANG Z, et al. PDE1A polymorphism contributes to the susceptibility of nephrolithiasis. BMC genomics. 2017; 18(1): 982.
47. YANG Z, et al. Polymorphisms of the VDR gene in patients with nephrolithiasis in a Han Chinese population. Urolithiasis. 2019; 47(2): 149-154.
48. ZHOU H, et al. Genetic polymorphism (rs6776158) in CaSR gene is associated with risk of nephrolithiasis in Chinese population. Medicine. 2018; 97(45): e13037.
49. ZIEMBA JB e MATLAGA BR. Epidemiology and economics of nephrolithiasis. Investigative and Clinical Urology. 2017; 58(5): e299–306.
2. ALYAMI MB, et al. Influence of BMI on the Recurrence Rate of Nephrolithiasis in the Adult Population of Saudi Arabia: A Retrospective Study. Cureus. 2023; 15(1): e33539.
3. BAI S, et al. Prospective comparison of extracorporeal shock wave lithotripsy versus flexible ureterorenoscopy in patients with non–lower pole kidney stones under the COVID-19 pandemic. Urolithiasis. 2023; 51(1): 38.
4. BALASUBRAMANIAN, P, et al. Empagliflozin and Decreased Risk of Nephrolithiasis: A Potential New Role for SGLT2 Inhibition? The Journal of Clinical Endocrinology and Metabolism. 2022; 107(7): e3003-e3007.
5. BU Q, et al. A polymorphism in the 3’-untranslated region of the matrix metallopeptidase 9 gene is associated with susceptibility to idiopathic calcium nephrolithiasis in the Chinese population. The Journal of International Medical Research. 2020; 48(12): e300060520980211.
6. CAMARGO I, et al. O hiperparatireoidismo primário como causa de litíase renal. Brazilian Journal of Health Review. 2021; 4(6): 28118–28127.
7. CAO B, et al. Pediatric Nephrolithiasis. Healthcare. 2023; 11(4): 552.
8. CARDOSO A, et al. A prevenção primária da nefrolitíase por meio de mudanças no estilo de vida: revisão de literatura. Brazilian Journal of Health Review. 2021; 4(2): e6987–6994.
9. CHEN H, et al. Prediction of the Uric Acid Component in Nephrolithiasis Using Simple Clinical Information about Metabolic Disorder and Obesity: A Machine Learning-Based Model. Nutrients. 2022; 14(9): e1829.
10. D'AMBROSIO V, et al. Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis. Kidney Blood Press Res. 2021; 46(4): 469-474.
11. DEVARAJAN A. Cross-talk between renal lithogenesis and atherosclerosis: an unveiled link between kidney stone formation and cardiovascular diseases. Clinical Science. 2018; 132(6): e615-626.
12. FERRARO PM, et al. Risk of Kidney Stones: Influence of Dietary Factors, Dietary Patterns, and Vegetarian-Vegan Diets. Nutrients. 2020; 12(3): e779.
13. GE YC, et al. Characteristics of genotype of monogenic nephrolithiasis in Chinese pediatric patients with nephrolithiasis. 2021; 101(38): 3115-3120.
14. HOU J, et al. Association of sirtuin 1 gene polymorphisms with nephrolithiasis in Eastern chinese population. Renal Failure. 2019; 41(1): 34-41.
15. HOWLES SA e THAKKER RV. Genetics of kidney stone disease. Nature Reviews Urology. 2020; 17(7): e407-421.
16. HUANG L, et al. Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort. Mol Genet Genomics. 2022; 297(4): 1049-1061.
17. IBRAHIM YA e WISEMAN OJ. Quality of life in patients with kidney stones. Archivos Espanoles De Urologia. 2021; 74(1): 135–144.
18. ICER MA, et al. Can urine osteopontin levels, which may be correlated with nutrition intake and body composition, be used as a new biomarker in the diagnosis of nephrolithiasis? Clinical Biochemistry. 2018; 60: e38-43.
19. INJEYAN M, et al. Hydration and Nephrolithiasis in Pediatric Populations: Specificities and Current Recommendations. Nutrients. 2023; 15(3): e728.
20. KARI JA, et al. Childhood nephrolithiasis and nephrocalcinosis caused by metabolic diseases and renal tubulopathy: A retrospective study from 2 tertiary centers. Saudi Med J. 2022, 43(1): 81-90.
21. KETTELER M, et al. Risk of Nephrolithiasis and Nephrocalcinosis in Patients with Chronic Hypoparathyroidism: A Retrospective Cohort Study. Advances in Therapy. 2021; 38(4): 1946-1957.
22. KOVACEVIC L, et al. Urinary proteomics reveals association between pediatric nephrolithiasis and cardiovascular disease. Int Urol Nephrol. 2018; 50(11): 1949-1954.
23. LEONE A. et al. Adherence to the Mediterranean Dietary Pattern and Incidence of Nephrolithiasis in the Seguimiento Universidad de Navarra Follow-up (SUN) Cohort. American Journal of Kidney Diseases: The Official Journal of the National Kidney Foundation. 2017; 70(6): 778-786.
24. LI H, et al. Calcium-sensing receptor gene polymorphism (rs7652589) is associated with calcium nephrolithiasis in the population of Yi nationality in Southwestern China. Annals of Human Genetics. 2018; 82(5): 265-271.
25. LIMA M, et al. Associação entre litíase renal e fatores de risco cardiovascular. Revista Ciências da Saúde. 2023; 119.
26. LIN BB, et al. Dietary and lifestyle factors for primary prevention of nephrolithiasis: a systematic review and meta-analysis. BMC nephrology. 2020; 21(1): 267.
27. MADDAHI N, et al. The association of Dietary Approaches to Stop Hypertension-style diet with urinary risk factors of kidney stones formation in men with nephrolithiasis. Clinical nutrition ESPEN. 2020; 39: 173-179.
28. MADDAHI N, et al. The association of dietary inflammatory index with urinary risk factors of kidney stones formation in men with nephrolithiasis. BMC research notes. 2020; 13(1): 373.
29. MAYANS L. Nephrolithiasis. Primary Care. 2019; 46(2): 203–212.
30. MEHDE AA, et al. Association of MMP-9 gene polymorphisms with nephrolithiasis patients. Journal of Clinical Laboratory Analysis. 2018; 32(1): e22173.
31. MEHDE AA, et al. Determination of alpha-2-MRAP gene polymorphisms in nephrolithiasis patients. International Journal of Biological Macromolecules. 2017; 105(1): 1324-1327.
32. MEHDI WA, et al. Genetic polymorphisms of human transcription factor-7 like 2 (TCF7L2), β-defensin (DEFB1) and CD14 genes in nephrolithiasis patients. Int J Biol Macromol. 2018; 15(118): 610-616.
33. MIAH T e KAMAT D. Pediatric Nephrolithiasis: A Review. Pediatric Annals. 2017; 46(6): e242–e244.
34. PAGE MJ, et al. The PRISMA 2020 statement: updated guideline for reporting systematic reviews. Panamerican Journal of Public Health. 2023; 46(10): e112.
35. REINER AP, et al. Kidney stones and subclinical atherosclerosis in young adults: the CARDIA study. The Journal of Urology. 2011; 185(3): 920-5.
36. RULE AD, et al. Kidney stones associate with increased risk for myocardial infarction. Journal of the American Society of Nephrology: JASN. 2010; 21(10): 1641-4.
37. SANTOS FMD, et al. Metabolic investigation in patients with nephrolithiasis. Einstein (São Paulo). 2017; 15(4): 452-456.
38. SIENER R. Nutrition and Kidney Stone Disease, Nutrients. 2021; 13(6): e1917.
39. SILVA BC. Skeletal and nonskeletal consequences of hypoparathyroidism. Archives of Endocrinology and Metabolism. 2022; 66(5): 642-650.
40. SINGH P, et al. The genetics of kidney stone disease and nephrocalcinosis. Nature Reviews. Nephrology, 2022; 18(4): 224–240.
41. STAMATELOU K, GOLDFARB DS. Epidemiology of Kidney Stones. Healthcare. 2023; 11(3): 424.
42. TICINESI A, et al. Understanding the gut-kidney axis in nephrolithiasis: an analysis of the gut microbiota composition and functionality of stone formers. Gut. 2018; 67(12): 2097-2106.
43. TRINCHIERI A, et al. Anthropometric variables, physical activity and dietary intakes of patients with uric acid nephrolithiasis. Urolithiasis. 2020; 48(2): 123-129.
44. WANG K, et al. Risk factors for kidney stone disease recurrence: a comprehensive meta-analysis. BMC Urology. 2022; 22(1): 62.
45. WANG L, et al. Genetic Variants Involved in the Crystallization Pathway Are Associated with Calcium Nephrolithiasis in the Chinese Han Population. Genes. 2022; 13(6): 943.
46. YANG Z, et al. PDE1A polymorphism contributes to the susceptibility of nephrolithiasis. BMC genomics. 2017; 18(1): 982.
47. YANG Z, et al. Polymorphisms of the VDR gene in patients with nephrolithiasis in a Han Chinese population. Urolithiasis. 2019; 47(2): 149-154.
48. ZHOU H, et al. Genetic polymorphism (rs6776158) in CaSR gene is associated with risk of nephrolithiasis in Chinese population. Medicine. 2018; 97(45): e13037.
49. ZIEMBA JB e MATLAGA BR. Epidemiology and economics of nephrolithiasis. Investigative and Clinical Urology. 2017; 58(5): e299–306.