Diagnosis at Mayo Clinic

By Mayo Clinic Staff

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

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

If these tests indicate that you may have primary hyperoxaluria, you'll likely need 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 primary hyperoxaluria is suspected or confirmed, 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.

Symptoms

Typically, the first sign of hyperoxaluria is a kidney stone. Symptoms of a kidney stone can include:

  • Severe or sudden back pain or pain over the area below the ribs on the back (flank) that doesn't go away
  • Blood in the urine
  • Frequent urge to urinate
  • Pain when urinating
  • Chills or fever

Kidney stones in childhood are uncommon. Kidney stones that form in children and teenagers are likely to be caused by an underlying condition, such as hyperoxaluria. For this reason, all young people with kidney stones should have a thorough evaluation, including measurement of oxalate in the urine. Adults with recurrent kidney stones also should be evaluated for oxalate in the urine.

Untreated primary hyperoxaluria can eventually damage your kidneys. Over time your kidneys may stop working. For some people, this is the first sign of the disease. Signs and symptoms of kidney failure include:

  • Decrease in urine output or no urine output at all
  • Feeling generally ill and tired
  • Loss of appetite, nausea and vomiting
  • Pale skin color related to anemia
  • Swelling of hands and feet

Oxalosis in its late stages can cause a variety of complications outside the kidney, including bone disease, anemia, skin ulcers, heart and eye problems, and in children, a failure to develop and grow normally.

Apr. 01, 2013