Stephen J. Schueler, M.D.

Overview Symptoms

Cystinuria Overview

What is cystinuria?
A person with cystinuria has an inherited condition where stones form in the kidneys, ureter and bladder. This occurs because the amino acid cysteine accumulates in the urine, where it can crystalize and form stones. This is a rare genetic disorder that affects only about 1 in 10,000 people.

What are the symptoms of cystinuria?
Symptoms of cystinuria are the same as a kidney stone and include unilateral flank pain, pelvic pain, groin pain, genital pain and blood in the urine.

How does the doctor treat cystinuria?
Treatment for cystinuria includes medications to dissolve the stones and lots of water. A low salt diet can also help reduce the concentration of cysteine in the urine. Surgery may be required if the stones do not pass through the urine on their own.

Continue to Cystinuria Symptoms

Last Updated: May 17, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Cystinuria References
  1. Lee EH, Kim YH, Hwang JS, Kim SH. Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation (G173R) in the SLC7A9 gene. J Korean Med Sci. 2010 Jan;25(1):172-5. Epub 2009 Dec 26. [20052367]
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