National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cystinuria


Other Names:
CSNU; Cystinuria-lysinuria
Categories:
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
Cystinuria is primarily 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 cystinuria are a consequence of stone formation and may include:[1][2][3]
Last updated: 5/11/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of amino acid metabolism 0004337
Hematuria
Blood in urine
0000790
Nephrolithiasis
Kidney stones
0000787
30%-79% of people have these symptoms
Hyperuricemia
High blood uric acid level
0002149
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Percent of people who have these symptoms is not available through HPO
Abnormality of the nervous system
Neurologic abnormalities
Neurological abnormality
[ more ] 		0000707
Argininuria
High urine arginine levels
0003268
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Cystinuria
High urine cystine levels
0003131
Hyperlysinuria
High urine lysine levels
0003297
Ornithinuria 0003532
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] 		0000010
Variable expressivity 0003828
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Last updated: 7/1/2020
Cystinuria is caused by changes (mutations) in the SLC3A1 and SLC7A9 genes. These genes encode a protein complex that helps control the reabsorption of amino acids (such as cystine) in the kidneys. Mutations in these genes disrupt the function of the protein complex, causing cystine to become more concentrated in the urine. As the concentration of cystine increases, cystine crystals and/or stones begin to form in the urinary tract leading to the many signs and symptoms associated with cystinuria.[4]
Last updated: 5/11/2015
Cystinuria is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.[4]
Last updated: 5/11/2015
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

Testing Resources

  • 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.
Treatment of cystinuria is focused on relieving symptoms and preventing the formation of additional stones. A more conservative approach is typically tried first. This may include increasing fluid intake, regular monitoring of urinary pH, dietary restrictions (i.e. eating less salt) and increasing the pH of urine with potassium citrate supplements. If these strategies do not prevent the formation of stones, medications may be added to help dissolve the cystine crystals.[1][2][3]

Treatment for cystinuria-related stones varies depending on the size and location of the stone, but may include:[1][2][3]

Medscape Reference's Web site offers more specific information regarding the treatment and management of cystinuria. Please click on the link to access this resource.

Last updated: 5/12/2015

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Cystinuria is a chronic condition and many affected people experience recurrent cystine stones in the urinary tract (kidneys, bladder and ureters). In rare cases, frequent kidney stones can lead to tissue damage or even kidney failure.[1][2]
Last updated: 5/12/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes three syndromes in which cystinuria is present: 2p21 deletion syndrome, hypotonia-cystinuria syndrome (HCS) and atypical HCS.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Cystinuria. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • The Rare Kidney Stone Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with primary hyperoxaluria, cystinuria, dihydroxyadeninuria, and Dent's disease through research. The Rare Kidney Stone Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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.
  4. Cystinuria. Genetics Home Reference. June 2014; http://www.ghr.nlm.nih.gov/condition/cystinuria.