The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Autosomal recessive inheritance||-|
|Calcium oxalate nephrolithiasis||-|
|Increased bone mineral density||-|
|Peripheral artery occlusive disease||-|
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.
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.
Dialysis to remove oxalate in people with PH1 has limitations, but may be indicated in specific circumstances in some people with PH1.
Lastly, organ transplantation is an option for therapy. There has been much discussion among experts regarding the best transplantation strategy for people with PH1. Depending on each person's response to other therapies and the disease severity, options may include combined liver-kidney transplant; sequential liver-kidney transplant; an isolated kidney transplant, or an isolated liver transplant.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Ninth International Primary Hyperoxaluria Workshop
Saturday, August 28, 2010 -
Sunday, August 29, 2010
Location: New York, NY
Description: The goals of this workshop were to (1) bring together the multidisciplinary primary hyperoxaluria (PH) treatment and research communities for dialogue and interaction in order to better understand the etiology of the PHs, optimize diagnosis and treatment strategies, and identify novel research and treatment approaches; (2) foster new collaborations among U.S. and international researchers and clinicians from a variety of backgrounds; (3) encourage the entry of new and junior researchers into the field of research on PHs and other oxalate-related diseases; and (4) inform PH patients, families, and friends of the latest advances in the understanding and clinical management of PHs.
Contact: Rebekah S. Rasooly, Ph.D.(301) email@example.com
Co-funding Institute(s): National Institute of Diabetes and Digestive and Kidney Diseases, Office of Rare Diseases Research
The following diseases are related to Primary hyperoxaluria type 1. If you have a question about any of these diseases, you can contact GARD.
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My 4 year old grandson was just diagnosed with primary hyperoxaluria 1. We need as much information as we can get. See answer