Medical and surgical therapy of the cystine stone patient

Cystinuria is an inherited defect in renal tubular and intestinal transport of dibasic amino acids that results in elevated urinary excretion of cystine, ornithine, lysine, and arginine. The only clinical manifestation of this disease is the development of urinary tract cystine calculi. Cystinuric patients suffer recurrent stone episodes, requiring an aggressive multi-modal approach to management. This article reviews the results of medical prevention regimens, the role of minimally invasive urologic intervention, and the recent insights into the complex genetic basis for the varied cystinuric phenotypes.