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)|
(present in 5%-29% of cases)
|Autosomal recessive inheritance||-|
|Calcium oxalate nephrolithiasis||-|
The current management strategy includes high fluid intake, treatment with inhibitors of calcium oxalate crystallization, and temporary intensive dialysis for end-stage renal disease (ESRD) followed by kidney transplantation. Varying success has been reported following transplantation, with recurrence being a real possibility since hyperoxaluria and elevated L-glycerate levels persist. Careful management in the postoperative period, with attention to brisk urine output and use of calcium oxalate urinary inhibitors may help prevent complications.
To date, liver-kidney transplantation has not been used in primary hyperoxaluria type 2. This strategy may be considered, however, as there is more enzyme in the liver than in other tissues. More studies are needed before liver transplantation can be recommended. Other treatment modalities needing further investigation include liver cell transplantation and recombinant gene therapy to replace the missing enzyme.
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.
Undiagnosed Day is April 29th
April 19, 2017
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) firstname.lastname@example.org
Co-funding Institute(s): National Institute of Diabetes and Digestive and Kidney Diseases, Office of Rare Diseases Research
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My son was recently diagnosed with primary hyperoxaluria type 2. Is this something that he can eventually outgrow? Can his liver repair itself and begin producing the missing enzyme? If not, is there any chance of him leading a full life or will he develop end stage renal disease before he has a chance to get old and gray? See answer