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Disease Profile
Cystinuria
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000
Age of onset
All ages
ICD-10
E72.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
CSNU; Cystinuria-lysinuria
Categories
Kidney and Urinary Diseases; RDCRN
Summary
Cystinuria is an
Symptoms
- Nausea
- Blood in the urine (hematuria)
- Flank pain
- Frequent urinary tract infections
- Chronic or acute renal failure (rare)
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.
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 |
0000006 | ||
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 |
0003828 |
Cause
Diagnosis
The following tests may be recommended to detect kidney stones and diagnose cystinuria:[1][2][3]
- 24-hour urine collection
- Abdominal
imaging (CT scan ,MRI , orultrasound ) - Intravenous pyelogram (IVP)
- Urinalysis
Genetic testing
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
Treatment for cystinuria-related stones varies depending on the size and location of the stone, but may include:[1][2][3]
- Extracorporeal shock wave lithotripsy (ESWL)
- Ureteroscopy
- Percutaneous nephrolithotomy
- Open surgery (in rare cases)
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.
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.
- Tiopronin(Brand name: Thiola®) Manufactured by Retrophin, Inc.
FDA-approved indication: Prevention of cystine nephrolithiasis in patients withhomozygous cystinuria.
National Library of Medicine Drug Information Portal
Related diseases
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.
|
Organizations
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
-
International Cystinuria Foundation
302 Belview Court
Longmont, CO 80501-4779
Website: https://cystinuria.org/
Organizations Providing General Support
-
American Kidney Fund (AKF)
11921 Rockville Pike
Suite 300
Rockville, MD 20852
Toll-free: 866-300-2900
E-mail: [email protected]
Website: https://www.kidneyfund.org -
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Toll-free: 800-622-9010
Telephone: 212-889-2210
Fax: 212-689-9261
E-mail: [email protected]
Website: https://www.kidney.org/
Learn more
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
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Cystinuria. This website is maintained by the National Library of Medicine.
- 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.
References
- Cystinuria. MedlinePlus. October 2013; https://www.nlm.nih.gov/medlineplus/ency/article/000346.htm.
- Chandra Shekhar Biyani, MBBS, MS, DUrol, FRCS(Urol), FEBU. Cystinuria. Medscape Reference. April 2015; https://emedicine.medscape.com/article/435678-overview.
- Saravakos P, Kokkinou V, Giannatos E. Cystinuria: current diagnosis and management. Urology. April 2014; 83(4):693-699.
- Cystinuria. Genetics Home Reference. June 2014; https://www.ghr.nlm.nih.gov/condition/cystinuria.
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