Living with Primary hyperoxaluria
An inherited condition in which the body makes too much oxalate, leading to repeated kidney and bladder stones and kidney damage.
Understanding Primary hyperoxaluria
Oxalate combines with calcium to form hard stones. Deposits can damage the kidneys and other organs and can lead to blood in the urine, urinary infections and kidney damage, including end-stage kidney disease. When kidney function falls, oxalate can build up in bones and blood vessel walls, which can cause fractures. There are three types. Type 1 stones usually start from childhood to early adulthood. Type 2 is similar to type 1, but kidney failure develops later. Type 3 often causes stones in early childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated kidney stones
- Blood in the urine
- Chronic kidney disease
- Bone pain
- Slow weight gain (failure to thrive)
- Vision changes from the retina and optic nerve
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
Primary hyperoxaluria is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. The three types differ in their genetic cause.
Also known as: hyperoxaluria, primary; primary oxalosis
Patient organizations
- Oxalosis and Hyperoxaluria FoundationPrimary hyperoxaluria · 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.
Explore research for Primary hyperoxaluria
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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