Because hyperoxaluria and oxalosis can damage the kidneys if not treated, an early diagnosis is important. Young people who have kidney stones should see a doctor, who will do a thorough physical exam. This will include a medical history and measurement of oxalate in the urine. Adults with kidney stones that keep coming back should also be evaluated for oxalate in the urine.
Tests to diagnose hyperoxaluria may include:
- Urine tests that measure oxalate
- Blood tests
- Kidney X-ray, ultrasound, or computerized tomography (CT) scans
- Genetic testing
If a kidney stone is passed or surgically removed, it can be tested. These tests can tell doctors if the cause of the stone is primary hyperoxaluria. If primary hyperoxaluria is found, additional testing will be necessary.
Genetic testing is particularly important for people with primary hyperoxaluria. Genetic tests can be used to diagnose the condition and prevent misdiagnosis. They can be used to help doctors see if treatments are working and can help people decide whether to enroll in a clinical trial.
They can also help people understand the risks of passing the condition to their children. Some companies provide genetic testing free of charge for people who have a family history of primary hyperoxaluria and who meet other requirements. People who want to have the genetic test performed should talk to their healthcare provider.
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