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Contemporary management of cystinuric patients.

Cystinuria is an inherited genetic disorder that results in excessive cystine excretion through defects in renal dibasic amino acid transport. Due to the relative insolubility of cystine in urine, patients with this condition are prone to progressive and recurrent episodes of stone formation. Medical treatment is aimed at decreasing the concentration of cystine in the urine as well as increasing its solubility. A standard regimen includes dietary manipulation with hydration and moderate salt restriction, alkalinization, and thiol derivatives. Despite aggressive medical management, cystinuric patients are likely to suffer stone recurrences, and urologic intervention often is required. Contemporary technology permits the use of minimally invasive techniques for the majority of these patients, and advances in shock wave lithotripsy, percutaneous nephrolithotomy, and ureteroscopic lithotripsy obviate the need for open surgery in essentially all instances.