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The formation of kidney stones stems from a wide range of underlying disorders. It is relevant for clinicians to look for underlying causes of nephrolithiasis to direct medical management. Substantial progress has been made in identification of metabolic risk factors predisposing nephrolithiasis. The role of specific genetic and epigenetic factors has remained less clear. Although important advances have been made in understanding nephrolithiasis due to single gene defects, the understanding of polygenetic causes is still elusive.1 Until recently familial clustering of idiopathic nephrolithiasis was the main support of a suggested genetic basis. Genetic testing for the most common idiopathic forms of nephrolithiasis has yielded a number of promising candidate genes, such as SPP1 (osteopontin), CASR (calcium-sensing receptor), VDR (vitamin D receptor), CLDN14 (claudin 14).2,3 Timely diagnosis of genetic determinants of nephrolithiasis is warranted to prevent development of kidney injury; however, diagnosis is often delayed owing to unfamiliarity with these rare disorders.4 Advances in the management of nephrolithiasis depend on the combined efforts of clinicians and scientists to understand the pathophysiology.

A physiological approach to recurrent nephrolithiasis and its genetic determinants