Nephrolithiasis Studies

David S. Goldfarb, MD

Nephrolithiasis studies are currently addressing genetic and environmental factors that influence stone disease.

Genetic: A twin registry has been established which we used to show a much higher rate of stone disease among monozygotic as compared with dizygotic twins, demonstrating the genetic nature of stone disease in the general population. Studies are now under way to determine which urinary risk factors for stone disease are modulated by genetics, with future studies aimed at identifying the underlying genes that regulate these risk factors.

Environmental: Several clinical studies are ongoing with a major focus on stone prevention. These studies are aimed at determining whether: (i) cystine supersaturation measurements are more meaningful then measurements of cystine excretion as a predictor for recurrent cystine stones; ii) how calcium supplements can be given safely to stone formers with diminished bone density; (iii) what beverages can be used to prevent stones; (iv) the role of sevelamer in stone prevention; and (v) effects of antibiotic therapy on intestinal colonization with Oxalobacter formigenes.

Current Nephrolithiasis studies: Rare Kidney Stone Consortium (RKSC): Cystinuria Registry and Dent Registry