Genetic and Environmental Risk Factors for Kidney Stones

  • Hala YamoutEmail author
  • Seth Goldberg
Part of the Nutrition and Health book series (NH)


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.


Genetics Environmental factors Adenine phosphoribosyltransferase (APRT) deficiency Cystinuria Hypercalciuria Hyperoxaluria 


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.VA St. Louis Health Care, St. Louis UniversitySt. LouisUSA
  2. 2.Washington University in St. LouisSt. LouisUSA

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