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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Cystinuria is an inherited condition characterized by a buildup of the amino acid, cystine, in the kidneys and bladder. This leads to the formation of cystine crystals and/or stones which may block the urinary tract. Signs and symptoms of the condition are related to the presence of stones and may include nausea, hematuria, flank pain, and/or frequent urinary tract infections. Cystinuria is caused by changes (mutations) in the SLC3A1 and SLC7A9 genes and is inherited in an autosomal recessive manner. The goal of treatment is to relieve symptoms and prevent the formation of stones.[1][2][3]
Last updated: 5/12/2015

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.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Cystinuria. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cystinuria. Click on the link to view a sample search on this topic.
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.