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||
|80%-99% of people have these symptoms|
High urine oxalate levels
|30%-79% of people have these symptoms|
|Recurrent urinary tract infections||
Frequent urinary tract infections
Urinary tract infection
Urinary tract infections
Urinary tract infections, recurrent
|5%-29% of people have these symptoms|
Renal failure in adulthood
|Percent of people who have these symptoms is not available through HPO|
|Calcium oxalate nephrolithiasis||0008672|
Blood in urine
The current management strategy includes high fluid intake, treatment with inhibitors of calcium oxalate crystallization, and temporary intensive
To date, liver-kidney transplantation has not been used in primary hyperoxaluria type 2. This strategy may be considered, however, as there is more
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.
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.
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) 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