cystinuria

cystinuria A genetic disorder that affects the transport of an amino acid called cystine and results in an excess of cystine in the urine and the formation of cystine kidney stones. Cystinuria is the most common defect in the transport of amino acids. Signs and symptoms of cystinuria include blood in the urine (hematuria); pain in the side due to kidney pain; intense, cramping pain due to stones in the urinary tract (renal colic); urinary tract disease due to obstruction (obstructive uropathy); and urinary tract infections. There are several genetic types of cystinura. See also cystine kidney stones.