Hyperoxaluria and Oxalosis

You’ll likely have a thorough physical exam. You might be asked questions about your health history and eating habits.

Tests to diagnose hyperoxaluria may include:

• Urine tests, to measure oxalate and other substances in the urine. You’re given a special container to collect your urine over 24 hours. It’s then sent to a lab.
• Blood tests, to check how well your kidneys work and measure oxalate levels in the blood.
• Stone analysis, to find out what kidney stones are made of after you’ve passed them through urine or gotten them removed with surgery.
• Kidney X-ray, ultrasound or computerized tomography (CT) scan, to check for any kidney stones or calcium oxalate buildup in the body.

You may need more tests to find out for sure if you have hyperoxaluria and see how the disease has affected other parts of your body. These tests may include:

• DNA testing to look for the gene changes that cause primary hyperoxaluria.
• Kidney biopsy to check for buildup of oxalate.
• Echocardiogram, an imaging test that can check for oxalate buildup in the heart.
• Eye exam to check for oxalate deposits in the eyes.
• Bone marrow biopsy to check for buildup of oxalate in the bones.
• Liver biopsy to look for low levels of proteins, also called enzyme deficiencies. This test is needed only in rare cases when genetic testing doesn’t show the cause of hyperoxaluria.

If you learn you have primary hyperoxaluria, your siblings also are at risk of the disease. They should have tests as well. If your child has primary hyperoxaluria, you may want to get genetic testing if you and your partner plan to have more children. Medical genetics counselors who have experience with hyperoxaluria can help guide your decisions and testing.