Aspectos genéticos e ambientais na etiologia da nefrolitíase: revisão sistemática

Abstract

Introduction: Nephrolithiasis (NL) is the formation and deposition of crystals, also called calculi or stones, in the kidneys. The overall prevalence of nephrolithiasis is globally on the rise. When analyzing the genetic aspects related to the disease in question, the prevalence of monogenic disorders is observed in the medical literature. Among the environmental aspects, nutrition is strongly associated with the risk of nephrolithiasis. Objective: Evaluate genetic and environmental factors associated with NL. Methods: Systematic review of the literature, designed according to the PICO strategy and based on the PRISMA protocol, with 92 articles initially screened for the review, analyzed according to the inclusion and exclusion criteria, with a final selection of 23 articles for the study. Results: It is observed that high BMI, high calcium and protein intake increase the risk of NL, while adherence to the DASH (Dietary Approaches to Stop Hypertension) diet and consumption of fruits and vegetables reduces the risk, while the consumption of alcoholic beverages was contradictory, now pointed out with sunscreen as a risk factor. Hypoparathyroidism, hyperparathyroidism, metabolic disorders, cardiovascular diseases and renal tubular acidosis were diseases that were causally or consequentially associated with NL. The following genes and polymorphisms have been related to NL: rs1056628 and C1562T in the MMP9 gene, rs6776158 and rs7627468 in the CaSR gene, rs35747824 in the PDILT gene, rs6667242 and rs1256328 in the ALPL gene, rs1544935 in KCNK5, rs7 328064 in DGKH, rs13041834 in BCAS1, rs182089527 in PDE1A gene, and alpha-2-MRAP, TCF7L2, GSTM1, GSTT1 genes. Conclusion: It is concluded that both genetic and environmental factors significantly influence the development of NL, however, further research is needed to clarify contradictions, such as the role of alcohol intake in the disease.