Renal stone formation (nephrolithiasis) is a worldwide problem causing substantial morbidity and economic burden. The heritability of stone formation has long been recognized, and with the advent of the genomic era, we have the potential to define the underlying genetic defects. Renal stone formation is multifactorial, with environmental factors interacting with underlying genetic factors. Isolated genetic defects and single gene disorders which lead to stone formation have been valuable in defining renal pathophysiology, but these remain rare diseases. In this review, we examine the genetics of nephrolithiasis by considering the genetic components of defined metabolic risk factors. Hypercalciuria is the most important risk factor for calcium stone formation, although hyperoxaluria, cystinuria and other rarer defects are discussed. It is important to consider the complexity of this condition, and realize that the understanding of the genetic basis of nephrolithiasis is within our grasp.
(c) 2008 S. Karger AG, Basel.