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Pediatr Nephrol. 2011 Mar;26(3):337-46. doi: 10.1007/s00467-010-1562-6. Epub 2010 Jun 19.

The genetic components of idiopathic nephrolithiasis.

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  • 1Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, G5.100, Dallas, TX 75390, USA.


Nephrolithiasis is a cause of significant morbidity and medical care expenses worldwide. Its prevalence has increased steadily during the last three decades among both adults and children. This trend suggests that changing environmental factors play a significant role in the risk of developing kidney stones although, conversely, there are many indications that genes play an important role in this condition as well. A limited number of monogenic forms have been identified, but the majority of nephrolithiasis cases are the result of complex, multi-factorial interactions between genetic inheritance and environmental exposure. Scientific evidence indicates that inheritance accounts for about half of the risk of common forms, making these forms suitable for investigation by genetic analysis. Here, we review the numerous studies that have been conducted to establish the role of genes in determining the risk of nephrolithiasis, the differential contribution of genes to this risk, and the confounding influence that environmental variables have on genetic studies.

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