Abstract
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.
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