Diagnosis

Diagnosis

stonesSchedule an appointment with your doctor to conduct a thorough physical exam including a medical history and dietary consult. Tests to diagnose hyperoxaluria may include

  • Urine tests to measure oxalate, glycolate and glycerate.
  • Blood tests to check oxalate levels in the blood and kidney function.
  • Kidney X-ray, ultrasound, or computerized tomography (CT scan) which can show kidney stones, calcium oxalate deposits and provide an internal view of the kidneys and urinary tract.

Stone analysis to determine the type of kidney stone once it passed or surgically removed.
If these tests indicate that you might have primary hyperoxaluria (PH) then additional testing will be necessary. These tests include

  • Genetic testing to look for inherited (genetic) mutations for PH, testing is currently available for three types — PH1, PH2 and PH3.
  • Kidney biopsy to check 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 deposit in the bones.
  • Liver biopsy to look for enzyme deficiencies in the liver — only needed in rare cases where genetic testing does not reveal PH.
    Genetic Testing

Genetic testing uses laboratory methods to look at your genes, which are the DNA instructions you inherit from your mother and your father. Genetic tests may be used to identify whether or not you have PH and help your doctor assess your response to treatments. You may decide to undergo a genetic test if you

  • have signs of PH.
  • have an increased risk of having PH.
  • think you might pass PH on to your children.
  • are pregnant and want your fetus to be tested for a disease.
  • Genes come in pairs. PH occurs in individuals who have received two copies of an autosomal recessive gene, one copy from each parent. Recessive inheritance means both genes in a pair must be abnormal to cause PH. People with only one defective gene in the pair are considered carriers. However, a parent can pass the abnormal gene to their children. If PH is suspected or confirmed, brothers and sisters of a patient should be tested.

Medical genetics counselors experienced in hyperoxaluria can help guide your decisions and testing. Tests such as blood levels of oxalate, urine or blood levels of glycolate or glycerate, DNA testing and liver biopsy enzyme analysis are not widely available and can only be arranged by a few selected laboratories.