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Disease Profile
Primary hyperoxaluria type 1
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.
0
Age of onset
All ages
ICD-10
E74.8
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)
HP1; Oxalosis 1; Glycolic aciduria;
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Metabolic disorders;
Summary
Primary hyperoxaluria type 1 (PH1) is a rare disorder that mainly affects the kidneys. It results from buildup of a substance called oxalate, which normally is filtered through the kidneys and excreted in the urine. In people with PH1, the accumulated oxalate is deposited in the kidneys and urinary tract. It combines with calcium, forming the main component of kidney and bladder stones (calcium oxalate).[1][2]
Signs and symptoms of PH1 vary in severity and may begin any time from infancy to early adulthood. Symptoms may include recurrent kidney stones; blood in the urine; and urinary tract infections. Left untreated, PH1 can result in end-stage renal disease, which is life-threatening.[1][2]
PH1 is due to
Early treatment is important for maintaining kidney function. Each person's treatment plan depends on his/her symptoms and the severity of the condition. Management may involve high fluid intake; vitamin B6 (pyridoxine); calcium-oxalate crystallization inhibitors (citrate, pyrophosphate, and magnesium); kidney stone therapies; and
Symptoms
Features of renal involvement can range from nephrocalcinosis and renal failure in infancy, to only occasional stones diagnosed in adulthood.[2] Kidney stones are commonly the first sign of hyperoxaluria. Symptoms of kidney stones can include sudden abdominal or flank pain; blood in the urine; frequent urge to urinate; pain while urinating; or fever and chills.[4]
Untreated PH1 leads to kidney failure, which is life-threatening. Symptoms of kidney failure can include decreased or no urine output; feeling ill or tired; loss of appetite; nausea and vomiting; and pale skin due to
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 circulating |
0011021 | |
Anemia |
Low number of red blood cells or hemoglobin
|
0001903 |
Calcinosis |
Calcium buildup in soft tissues of body
|
0003761 |
Hyperoxaluria |
High urine oxalate levels
|
0003159 |
Metabolic acidosis | 0001942 | |
Nephrocalcinosis |
Too much calcium deposited in kidneys
|
0000121 |
Nephrolithiasis |
Kidney stones
|
0000787 |
30%-79% of people have these symptoms | ||
Decreased glomerular filtration rate | 0012213 | |
Dysuria |
Painful or difficult urination
|
0100518 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Hematuria |
Blood in urine
|
0000790 |
5%-29% of people have these symptoms | ||
Abnormality of the skeletal system |
Skeletal abnormalities
Skeletal anomalies
[ more ] |
0000924 |
Enuresis | 0000805 | |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] |
0000010 |
Stage 5 chronic |
0003774 | |
1%-4% of people have these symptoms | ||
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] |
0000164 |
Atherosclerosis |
Narrowing and hardening of arteries
|
0002621 |
Stroke | 0001297 | |
Percent of people who have these symptoms is not available through HPO | ||
Acrocyanosis |
Persistent blue color of hands, feet, or parts of face
|
0001063 |
Arterial occlusion | 0025324 | |
Atrioventricular block |
Interruption of electrical communication between upper and lower chambers of heart
|
0001678 |
0000007 | ||
Bone pain | 0002653 | |
Calcinosis cutis | 0025520 | |
Calcium oxalate nephrolithiasis | 0008672 | |
Choroidal neovascularization | 0011506 | |
Cutis marmorata | 0000965 | |
Gangrene |
Death of body tissue due to lack of blood flow or infection
|
0100758 |
Increased bone mineral density |
Increased bone density
|
0011001 |
Intermittent claudication | 0004417 | |
Optic atrophy | 0000648 | |
Optic neuropathy |
Damaged optic nerve
|
0001138 |
Pathologic fracture |
Spontaneous fracture
|
0002756 |
Peripheral arterial stenosis | 0004950 | |
0009830 | ||
Raynaud phenomenon | 0030880 | |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
Retinal crystals | 0030507 | |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
Cause
Mutations in the AGXT gene lead to a decrease in the amount or function of the enzyme, preventing the breakdown of glyoxylate. This is turn causes glyoxylate to accumulate, and it is converted to oxalate instead of glycine. Excess oxalate that is not excreted from the body then combines with calcium to form calcium oxalate, which damages the kidneys and other
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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
General therapies for preventing kidney stones benefit all people with PH1. Recommendations for this include:
- drinking large amounts of fluid
- oral potassium citrate to inhibit calcium oxalate crystallization
- drugs such as thiazides to decrease calcium in the urine
- avoiding significant intake of vitamin C or D (they promote stone formation)
- supplementation of dietary calcium
Treatment for kidney stones may involve shock wave lithotripsy, percutaneous nephrolithotomy, and/or ureteroscopy.
Reducing the body's production of oxalate involves treatment with pyridoxine. While only about 10%-30% of people with PH1 respond to treatment with pyridoxine, it has been recommended that all people with PH1 receive a minimum 3-month trial at the time of initial diagnosis.
Lastly,
Other therapies for PH1 are under investigation and may become options for people with PH1 in the future.
People with questions about the treatment of PH1 for themselves or family members should speak with their doctor for treatment options and advice.
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.
- Lumasiran(Brand name: Oxlumo™) Manufactured by Alnylam Pharmaceuticals
FDA-approved indication: Oxlumo™ is indicated for the treatment of primary hyperoxaluria type 1 (PH1) to lower oxalate levels in pediatric and adult patients
National Library of Medicine Drug Information Portal
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
-
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org -
National Kidney Federation (NKF)
The Point
Shireoaks
Coach Road
Worksop
Notts S81 8BW
United Kingdom
Telephone: 0845 601 02 09
Website: https://www.kidney.org.uk/ -
Oxalosis and Hyperoxaluria Foundation (OHF)
579 Albany Post Road
New Paltz, NY 12561
Toll-free: 1-800-OHF-8699
Telephone: 212-777-0470
E-mail: [email protected]
Website: https://ohf.org/
Organizations Providing General Support
-
American Association of Kidney Patients
3505 E. Frontage Rd., Suite 315
Tampa, FL 33607-1796
Toll-free: 800-749-2257
Telephone: 813-636-8100
Fax: 813-636-8122
E-mail: [email protected]
Website: https://www.aakp.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/ -
The Kidney Foundation of Canada
700-15 Gervais Drive
Toronto Ontario M3C 1Y8
Canada
Toll-free: 800-387-4474
Telephone: 416-445-0373
Fax: 416-445-7440
E-mail: [email protected]
Website: https://www.kidney.on.ca
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
- Genetics Home Reference (GHR) contains information on Primary hyperoxaluria type 1. 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.
- The Oxalosis and Hyperoxaluria Foundation (OHF), the leading organization dedicated to the awareness, understanding and treatment of primary hyperoxaluria, provides information about this condition.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Primary hyperoxaluria type 1. Click on the link to view a sample search on this topic.
References
- Primary hyperoxaluria. Genetics Home Reference. December, 2015; https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria.
- Marion B Coulter-Mackie, Colin T White, Dirk Lange, and Ben H Chew. Primary Hyperoxaluria Type 1. GeneReviews. July 17, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1283/.
- Pierre Cochat. Primary hyperoxaluria type 1. Orphanet. June, 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598.
- Symptoms. Oxalosis & Hyperoxaluria Foundation. 2015; https://ohf.org/symptoms/.
- Primary Hyperoxaluria. NORD. 2014; https://rarediseases.org/rare-diseases/primary-hyperoxaluria.
- Pierre Cochat et. al. Primary Hyperoxaluria Type 1. Nephrology Dialysis Transplantation. 2012; 27(5):1729-1736. https://www.medscape.com/viewarticle/764202_5.
- Lorenz EC, Michet CJ, Milliner DS & Lieske JC. Update on oxalate crystal disease. Curr Rheumatol Rep. 2013 Jul;.. July, 2013; 15(7):340. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710657/.
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