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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cystinuria


Other Names for this Disease
  • CSNU
  • Cystinuria - lysinuria
  • Cystinuria-lysinuria
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Tests & Diagnosis

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How is cystinuria diagnosed?

Screening for cystinuria should be considered in people with recurrent or bilateral (i.e. affecting both kidneys) stones; those who develop stones at an early age (before age 30); and people who have a family history of cystinuria. A diagnosis is typically made after an episode of kidney stones when testing reveals that the stones are made of cystine.[1][2][3]

The following tests may be recommended to detect kidney stones and diagnose cystinuria:[1][2][3]
Last updated: 5/11/2015

References
  1. Cystinuria. MedlinePlus. October 2013; http://www.nlm.nih.gov/medlineplus/ency/article/000346.htm.
  2. Chandra Shekhar Biyani, MBBS, MS, DUrol, FRCS(Urol), FEBU. Cystinuria. Medscape Reference. April 2015; http://emedicine.medscape.com/article/435678-overview.
  3. Saravakos P, Kokkinou V, Giannatos E. Cystinuria: current diagnosis and management. Urology. April 2014; 83(4):693-699.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • CSNU
  • Cystinuria - lysinuria
  • Cystinuria-lysinuria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.