Living with Primary hyperoxaluria, type II
An inherited condition in which the body makes too much oxalate, causing kidney stones and sometimes kidney damage.
Understanding Primary hyperoxaluria, type II
In the kidneys, the extra oxalate combines with calcium to form hard calcium oxalate, the main part of kidney stones. Deposits can lead to kidney damage, kidney failure and injury to other organs. It is caused by a shortage of an enzyme called GRHPR. It often starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Kidney stones
- Calcium deposits in the kidneys
- Repeated urinary tract infections
- Blocked urine tube (ureter)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in GRHPR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Oxalosis and Hyperoxaluria Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the GRHPR gene cause a shortage of the enzyme glyoxylate reductase/hydroxypyruvate reductase. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: d-glycerate dehydrogenase deficiency; deficiency of glycerate dehydrogenase; deficiency of glyoxylate reductase; glycerate dehydrogenase deficiency; glyceric aciduria; glyceric dehydrogenase deficiency
Patient organizations
- Oxalosis and Hyperoxaluria FoundationPrimary hyperoxaluria, type II · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Primary hyperoxaluria, type II.
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