Genetic and Environmental Risk Factors for Kidney Stones
Risk factors for kidney stones include genetic and environmental factors. An underlying genetic condition should be suspected in those diagnosed at a young age or with recurrent or bilateral disease. Most genetic defects increase production or excretion of lithogenic components, while others alter urinary pH. Genetic alterations cause hypercalciuria mostly by decreasing calcium resorption, thereby increasing the risk of calcium-based stones. Hyperoxaluria can be caused by several genetic factors related to increased oxalate production and excretion. There are two major genes responsible for the development of cystinuria and genotype is now used for classification. Adenine phosphoribosyltransferase (APRT) deficiency is an autosomal recessive disease caused by deficiency in the enzyme responsible for adenine metabolism that is associated with both kidney stones and renal failure.
Environmental factors such as warmer climate, type of work, socioeconomic class, and geography may cooperate with underlying genetic factors to contribute to the development of kidney stones.
KeywordsGenetics Environmental factors Adenine phosphoribosyltransferase (APRT) deficiency Cystinuria Hypercalciuria Hyperoxaluria
- 6.Devuyst O, Jouret F, Auzanneau C, Courtoy PJ. Chloride channels and endocytosis: new insights from Dent’s disease and ClC-5 knockout mice. Nephron Physiol. 2005;99(3):69–73.Google Scholar
- 13.Mayan H, Munter G, Shaharabany M, Mouallem M, Pauzner R, Holtzman EJ, et al. Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: description of a large family with the Q565E WNK4 mutation. J Clin Endocrinol Metab. 2004;89(8):4025–30.PubMedGoogle Scholar
- 30.Dello SL, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, de Sanctis L, et al. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol. 2002;13(10):2547–53.Google Scholar