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Genetic and Rare Diseases Information Center (GARD)

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Cystinuria


Other Names for this Disease

  • CSNU
  • 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 the buildup of cystine crystals or stones in the kidneys and bladder. Cystine is an amino acid, one of the building blocks of proteins. 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 and the amino acid accumulates in their urine, eventually forming crystals. As these crystals become larger, they form stones that may lodge in the kidneys or in the bladder. Sometimes cystine crystals combine with calcium molecules in the kidneys to form larger 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. Cystinuria is caused by mutations in the SLC3A1 and SLC7A9 genes. It is inherited in an autosomal recessive pattern.[1] The goal of treatment is to relieve symptoms and prevent more stones.[2]
Last updated: 7/15/2013

References

  1. Cystinuria. Genetics Home Reference (GHR). January 2009; http://www.ghr.nlm.nih.gov/condition/cystinuria. Accessed 7/15/2013.
  2. Cystinuria. MedlinePlus. September 2012; http://www.nlm.nih.gov/medlineplus/ency/article/000346.htm. Accessed 7/15/2013.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Cystinuria. We will answer your question and update these pages with new resources and information.

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