Hyperoxaluria and Oxalosis

Diagnosis

At Mayo Clinic, a specialist in kidney diseases (nephrologist) usually manages your care. Mayo Clinic's laboratory has special capability to run specific tests for hyperoxaluria, such as DNA testing and measurement of oxalate in blood and urine, that aren't widely available.

Your doctor will conduct a thorough physical examination, including a medical history and discussion of your diet. Tests to diagnose hyperoxaluria may include:

• Urine tests measure oxalate and other metabolite levels in the urine
• Blood tests show oxalate levels in the blood, as well as DNA changes related to primary hyperoxaluria
• Kidney X-ray, ultrasound or CT scan show any kidney stones or calcium oxalate deposits

If these tests indicate that you may have primary hyperoxaluria, additional tests may be performed to confirm the diagnosis or to see how it has affected other parts of your body. These tests include:

• Liver biopsy to look for enzyme deficiencies
• Kidney biopsy to look for oxalate deposits
• Echocardiogram to check for oxalate deposits in the heart
• Eye examination to check for oxalate deposits in the eyes
• Bone marrow biopsy to check for oxalate deposits in the bones

If primary hyperoxaluria is suspected or confirmed, your siblings should be tested as well. If your child has primary hyperoxaluria, you may want to consider genetic testing if you plan to have more biological children. Medical genetics counselors experienced in hyperoxaluria can help guide your decisions and testing.