Cystinuria is a disorder characterized by cystine stones in the kidney, ureter, and bladder. A genetic abnormality results in abnormal transport of amino acids in the kidney. The high levels of the amino acid cystine in the urine lead to stone formation. While this disease only accounts for 1% to 2% of urinary tract stones in the general population, it is the most common cause among children.
Review Date 1/15/2020
Updated by: Sovrin M. Shah, MD, Assistant Professor, Department of Urology, The Icahn School of Medicine at Mount Sinai, New York, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.