Cystinuria is an autosomal recessive disease characterized by renal and intestinal transport
defects of dibasic amino acids including cystine, ornithine, lysine, and arginine [1]. The
relative insolubility of cystine results in supersaturation of urine with cystine and recurrent
stone formation, which is the hallmark of the disease. Recent advances in molecular biology
have greatly improved our understanding of the pathophysiology of this disease. Current
medical management is often disappointing, however, and many patients continue to suffer …