Diagnosis

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

• Urine tests, to measure oxalate and other metabolite levels in the urine
• Blood tests, to show kidney function as well as oxalate levels in the blood
• Stone analysis, to determine the composition of kidney stones passed or surgically removed
• Kidney X-ray, ultrasound or computerized tomography (CT) scan, to check for any kidney stones or calcium oxalate deposits

After initial testing, your doctor may recommend more tests to confirm the diagnosis and see how the disease has affected other parts of your body. These tests may include:

• DNA testing to look for inherited causes (primary hyperoxaluria)
• Kidney biopsy to look for oxalate deposits
• Echocardiogram to check for oxalate deposits in the heart
• Eye exam to check for oxalate deposits in the eyes
• Bone marrow biopsy to check for oxalate deposits in the bones
• Liver biopsy to look for enzyme deficiencies — only needed in rare cases where genetic testing does not reveal the cause of hyperoxaluria

If you're diagnosed with primary hyperoxaluria, your siblings are at risk of the disease and 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.