Living with Hereditary xanthinuria type 1
A rare inherited condition of purine metabolism that can cause kidney stones, blood in the urine, and infections.
Understanding Hereditary xanthinuria type 1
It leads to high xanthine with low or absent uric acid. This can cause kidney stones (urolithiasis), blood in the urine, kidney colic, and urinary tract infections. Some people have no symptoms and others develop kidney failure. Less often it causes joint disease, muscle disease, and duodenal ulcer.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Xanthine kidney stones
- Swelling of the kidney from blocked urine (hydronephrosis)
- Kidney infection (pyelonephritis)
- Muscle disease (myopathy)
- Blood in the urine
- Kidney colic
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.
- 3Consider genetic testing
Changes in XDH 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
- 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
It is caused by changes in the XDH gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: deficiency of hypoxanthine oxidase; deficiency of xanthine oxidase; isolated xanthine oxidase deficiency; xan1; xanthine oxidase deficiency; xanthine oxidoreductase deficiency
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
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Perspectives from people navigating life with Hereditary xanthinuria type 1.
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