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Genetics Home Reference: your guide to understanding genetic conditions
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Cystinuria

Reviewed June 2014

What is cystinuria?

Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodstream, so the amino acid accumulates in their urine.

As urine becomes more concentrated in the kidneys, the excess cystine forms crystals. Larger crystals become stones that may lodge in the kidneys or in the bladder. Sometimes cystine crystals combine with calcium molecules in the kidneys to form large stones. These crystals and stones can create blockages in the urinary tract and reduce the ability of the kidneys to eliminate waste through urine. The stones also provide sites where bacteria may cause infections.

How common is cystinuria?

Cystinuria affects approximately 1 in 10,000 people.

What genes are related to cystinuria?

Mutations in the SLC3A1 or SLC7A9 gene cause cystinuria. The SLC3A1 and SLC7A9 genes provide instructions for making the two parts (subunits) of a protein complex that is primarily found in the kidneys. Normally this protein complex controls the reabsorption of certain amino acids, including cystine, into the blood from the filtered fluid that will become urine. Mutations in either the SLC3A1 gene or SLC7A9 gene disrupt the ability of the protein complex to reabsorb amino acids, which causes the amino acids to become concentrated in the urine. As the levels of cystine in the urine increase, the crystals typical of cystinuria form. The other amino acids that are reabsorbed by the protein complex do not create crystals when they accumulate in the urine.

Related Gene(s)

Changes in these genes are associated with cystinuria.

  • SLC3A1
  • SLC7A9

How do people inherit cystinuria?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of cystinuria?

These resources address the diagnosis or management of cystinuria and may include treatment providers.

  • Genetic Testing Registry: Cystinuria (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0010691)
  • MedlinePlus Encyclopedia: Cystinuria (http://www.nlm.nih.gov/medlineplus/ency/article/000346.htm)
  • MedlinePlus Encyclopedia: Cystinuria (image) (http://www.nlm.nih.gov/medlineplus/ency/imagepages/17046.htm)

You might also find information on the diagnosis or management of cystinuria in Educational resources (http://www.ghr.nlm.nih.gov/condition/cystinuria/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/cystinuria/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about cystinuria?

You may find the following resources about cystinuria helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for cystinuria?

  • CSNU

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about cystinuria?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding cystinuria?

acids ; amino acid ; autosomal ; autosomal recessive ; bacteria ; calcium ; cell ; cysteine ; cystine ; gene ; inherited ; kidney ; kidney stones ; protein ; recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Claes DJ, Jackson E. Cystinuria: mechanisms and management. Pediatr Nephrol. 2012 Nov;27(11):2031-8. doi: 10.1007/s00467-011-2092-6. Epub 2012 Jan 27. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22281707?dopt=Abstract)
  • Knoll T, Zöllner A, Wendt-Nordahl G, Michel MS, Alken P. Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up. Pediatr Nephrol. 2005 Jan;20(1):19-24. Epub 2004 Nov 25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15602663?dopt=Abstract)
  • Langman CB. The molecular basis of kidney stones. Curr Opin Pediatr. 2004 Apr;16(2):188-93. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15021200?dopt=Abstract)
  • Mattoo A, Goldfarb DS. Cystinuria. Semin Nephrol. 2008 Mar;28(2):181-91. doi: 10.1016/j.semnephrol.2008.01.011. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18359399?dopt=Abstract)
  • Saravakos P, Kokkinou V, Giannatos E. Cystinuria: current diagnosis and management. Urology. 2014 Apr;83(4):693-9. doi: 10.1016/j.urology.2013.10.013. Epub 2013 Nov 16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/24246330?dopt=Abstract)
  • Townsend DM, Tew KD, Tapiero H. Sulfur containing amino acids and human disease. Biomed Pharmacother. 2004 Jan;58(1):47-55. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14739061?dopt=Abstract)
  • Trinchieri A, Dormia G, Montanari E, Zanetti G. Cystinuria: definition, epidemiology and clinical aspects. Arch Ital Urol Androl. 2004 Sep;76(3):129-34. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15568305?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2014
Published: September 15, 2014