Living with Primary hyperoxaluria, type I
An inherited kidney condition in which too much oxalate builds up, causing repeated kidney stones and blood in the urine.
Understanding Primary hyperoxaluria, type I
Oxalate is normally filtered by the kidneys and passed in urine. In PH1 it collects in the kidneys and urinary tract and combines with calcium to form kidney and bladder stones. Signs vary and may start from infancy to early adulthood. They can include recurrent kidney stones, blood in the urine and urinary tract infections.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidney stones
- Blood in the urine
- Painful or difficult urination
- Calcium deposits in the kidneys
- Slow weight gain (failure to thrive)
- Low red blood cells (anemia)
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 AGXT 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 AGXT gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: 2-oxoglutarate glyoxylate carboligase deficiency; agxt primary hyperoxaluria; alanine-glycoxylate aminotransferase deficiency; alanine-glyoxylate aminotransferase deficiency; glycolic aciduria; hepatic agt deficiency
Patient organizations
- Oxalosis and Hyperoxaluria FoundationPrimary hyperoxaluria, type I · United States
- American Association of Kidney PatientsPrimary hyperoxaluria, type I · 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 I.
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