Abstract
Objective: To evaluate the genetic and environmental factors associated with Nephrolithiasis (NL). Methods: Integrative review, outlined by the PICO strategy, the survey was carried out in the MEDLINE and PUBMED databases. The following descriptors were used: "Nephrolitiasis", "Genetics", "Diet" and "Exercises". The inclusion criteria were: full articles, in the last 5 years, with methodology according to the proposed objective. A total of 92 articles were selected. and 23 were selected. Results: High Body mass index (BMI) and high intake of calcium and protein have been found to increase the risk of LN, while the DASH diet (Dietary Approach to Stop Hypertension), fruits and vegetables, reduce the risk. The consumption of alcoholic beverages was sometimes identified as a protector, sometimes as a risk factor. Thyroid, cardiovascular, metabolic diseases and renal tubular acidosis and the genes and polymorphisms: rs1056628 and C1562T were related to LN: MMP9 gene, rs6776158 and rs7627468: CaSR gene, rs35747824: PDILT gene, rs6667242 and rs1256328: ALPL gene, rs1544935 in KCNK5, rs7328064 in DGKH, rs13041834 in BCAS1, rs182089527: PDE1A gene, and the alpha-2-MRAP genes, TCF7L2, GSTM1, GSTT1. Final considerations: It is considered that both genetic and environmental factors significantly influence the development of NL.
References
ALEXANDER RT, et al. Kidney Stones and Cardiovascular Events: A Cohort Study. Clin. J. Am. Soc. Nephrol. 2014; 9(3): 506-12.
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.
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.
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.
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.
CAMARGO I, et al. O hiperparatireoidismo primário como causa de litíase renal. Brazilian Journal of Health Review. 2021; 4(6): 28118–28127.
CAO B, et al. Pediatric Nephrolithiasis. Healthcare. 2023; 11(4): 552.
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.
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.
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.
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.
FERRARO PM, et al. Risk of Kidney Stones: Influence of Dietary Factors, Dietary Patterns, and Vegetarian-Vegan Diets. Nutrients. 2020; 12(3): e779.
GE YC, et al. Characteristics of genotype of monogenic nephrolithiasis in Chinese pediatric patients with nephrolithiasis. 2021; 101(38): 3115-3120.
HOU J, et al. Association of sirtuin 1 gene polymorphisms with nephrolithiasis in Eastern chinese population. Renal Failure. 2019; 41(1): 34-41.
HOWLES SA e THAKKER RV. Genetics of kidney stone disease. Nature Reviews Urology. 2020; 17(7): e407-421.
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.
IBRAHIM YA e WISEMAN OJ. Quality of life in patients with kidney stones. Archivos Espanoles De Urologia. 2021; 74(1): 135–144.
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.
INJEYAN M, et al. Hydration and Nephrolithiasis in Pediatric Populations: Specificities and Current Recommendations. Nutrients. 2023; 15(3): e728.
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.
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.
KOVACEVIC L, et al. Urinary proteomics reveals association between pediatric nephrolithiasis and cardiovascular disease. Int Urol Nephrol. 2018; 50(11): 1949-1954.
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.
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.
LIMA M, et al. Associação entre litíase renal e fatores de risco cardiovascular. Revista Ciências da Saúde. 2023; 119.
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.
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.
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.
MAYANS L. Nephrolithiasis. Primary Care. 2019; 46(2): 203–212.
MEHDE AA, et al. Association of MMP-9 gene polymorphisms with nephrolithiasis patients. Journal of Clinical Laboratory Analysis. 2018; 32(1): e22173.
MEHDE AA, et al. Determination of alpha-2-MRAP gene polymorphisms in nephrolithiasis patients. International Journal of Biological Macromolecules. 2017; 105(1): 1324-1327.
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.
MIAH T e KAMAT D. Pediatric Nephrolithiasis: A Review. Pediatric Annals. 2017; 46(6): e242–e244.
PAGE MJ, et al. The PRISMA 2020 statement: updated guideline for reporting systematic reviews. Panamerican Journal of Public Health. 2023; 46(10): e112.
REINER AP, et al. Kidney stones and subclinical atherosclerosis in young adults: the CARDIA study. The Journal of Urology. 2011; 185(3): 920-5.
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.
SANTOS FMD, et al. Metabolic investigation in patients with nephrolithiasis. Einstein (São Paulo). 2017; 15(4): 452-456.
SIENER R. Nutrition and Kidney Stone Disease, Nutrients. 2021; 13(6): e1917.
SILVA BC. Skeletal and nonskeletal consequences of hypoparathyroidism. Archives of Endocrinology and Metabolism. 2022; 66(5): 642-650.
SINGH P, et al. The genetics of kidney stone disease and nephrocalcinosis. Nature Reviews. Nephrology, 2022; 18(4): 224–240.
STAMATELOU K, GOLDFARB DS. Epidemiology of Kidney Stones. Healthcare. 2023; 11(3): 424.
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.
TRINCHIERI A, et al. Anthropometric variables, physical activity and dietary intakes of patients with uric acid nephrolithiasis. Urolithiasis. 2020; 48(2): 123-129.
WANG K, et al. Risk factors for kidney stone disease recurrence: a comprehensive meta-analysis. BMC Urology. 2022; 22(1): 62.
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.
YANG Z, et al. PDE1A polymorphism contributes to the susceptibility of nephrolithiasis. BMC genomics. 2017; 18(1): 982.
YANG Z, et al. Polymorphisms of the VDR gene in patients with nephrolithiasis in a Han Chinese population. Urolithiasis. 2019; 47(2): 149-154.
ZHOU H, et al. Genetic polymorphism (rs6776158) in CaSR gene is associated with risk of nephrolithiasis in Chinese population. Medicine. 2018; 97(45): e13037.
ZIEMBA JB e MATLAGA BR. Epidemiology and economics of nephrolithiasis. Investigative and Clinical Urology. 2017; 58(5): e299–306.
