Living with Xanthinuria type II
A rare inherited condition of how the body handles purines, which can cause xanthine kidney stones and sometimes kidney problems.
Understanding Xanthinuria type II
People with this condition lack two enzymes, xanthine dehydrogenase and aldehyde oxidase. This can lead to xanthine stones in the urinary tract and, in some people, kidney failure. Less common problems include joint disease, muscle disease and duodenal ulcer. Some people have no symptoms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle aches (myalgia)
- Kidney stones
- Kidney failure in some people
- Joint problems (arthropathy)
- Duodenal ulcer
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 MOCOS 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
Changes in the MOCOS gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: xan2; xanthine dehydrogenase and aldehyde oxidase combined deficiency of; xanthine dehydrogenase and aldehyde oxidase, combined deficiency of; xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency; xdh and aox dual deficiency
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 Xanthinuria type II.
Explore research for Xanthinuria type II
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- Eligibility is confirmed by the study team
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