Cystinuria

Abstract

Cystinuria is an inherited disorder of amino acid transport characterized by excessive excretion of cystine, lysine, arginine, and ornithine. Urolithiasis is caused by the relative insolubility of cystine in the urine. Symptoms often occur in childhood or early adult life, but cystinuria may become clinically evident at any age. Repeated stone formation is typical. An integrated program of medical and surgical management is important in achieving a favorable long-term outcome.