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 1-2 % of urinary tract stones in the general population, it is the most common cause among children.
Last reviewed 9/24/2012 by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc. Louis S. Liou, MD, PhD, Chief of Urology, Cambridge Health Alliance, Visiting Assistant Professor of Surgery, Harvard Medical School.
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