Living with Familial renal hypouricemia
A kidney condition in which uric acid is very low in the blood and too much passes into the urine, sometimes causing kidney problems.
Understanding Familial renal hypouricemia
Many people have no symptoms. Some develop kidney problems, including kidney injury after hard exercise, with side and lower back pain, nausea and vomiting. The extra urate in urine raises the risk of urate kidney stones and blood in the urine. It can be found at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidney injury after strenuous exercise
- Side and lower back pain
- Nausea and vomiting
- Uric acid kidney stones
- Blood in the urine
- Abnormal kidney function
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 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
- 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 National Kidney 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 genes cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: hereditary renal hypouricemia
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial renal hypouricemia.
Explore research for Familial renal hypouricemia
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- Eligibility is confirmed by the study team
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