Living with Hereditary xanthinuria
An inherited condition with high xanthine and low uric acid that can form kidney stones, though some people have no problems.
Understanding Hereditary xanthinuria
Extra xanthine can form tiny crystals in the kidneys, which sometimes build up into kidney stones that can impair kidney function. Related signs include belly pain, repeated urinary tract infections, and blood in the urine. Less often crystals build up in muscles, causing pain and cramping. Some people have no health problems. Types I and II involve different enzymes but have the same signs.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidney stones (xanthine stones)
- Belly or side pain
- Blood in the urine
- Repeated urinary tract infections
- Muscle pain and cramping
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
GARD says changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: classic xanthinuria; classical xanthinuria; xanthic urolithiasis; xanthine dehydrogenase deficiency; xanthine stone disease
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 Hereditary xanthinuria.
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