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How are these conditions diagnosed?

Because hyperoxaluria and oxalosis can damage the kidneys if not treated, an early diagnosis is important. Young people who have kidney stones should see a doctor, who will do a thorough physical exam. This will include a medical history and measurement of oxalate in the urine. Adults with kidney stones that keep coming back should also be evaluated for oxalate in the urine.

Tests to diagnose hyperoxaluria may include:

  • Urine tests that measure oxalate
  • Blood tests
  • Kidney X-ray, ultrasound, or computerized tomography (CT) scans
  • Genetic testing

If a kidney stone is passed or surgically removed, it can be tested. These tests can tell doctors if the cause of the stone is primary hyperoxaluria. If primary hyperoxaluria is found, additional testing will be necessary.

Genetic testing is particularly important for people with primary hyperoxaluria. Genetic tests can be used to diagnose the condition and prevent misdiagnosis. They can be used to help doctors see if treatments are working and can help people decide whether to enroll in a clinical trial.

They can also help people understand the risks of passing the condition to their children. Some companies provide genetic testing free of charge for people who have a family history of primary hyperoxaluria and who meet other requirements. People who want to have the genetic test performed should talk to their healthcare provider.

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Are treatments being developed?

David Sas, D.O., Pediatric Nephrologist, Mayo Clinic

Yes. Pharmaceutical companies are working to develop treatments for hyperoxaluria and oxalosis. OHF partners with these companies and others in the scientific community to support clinical research into treatment for these diseases.

See more videos similar to Dr. David Sas's on our YouTube channel.

 

How are these conditions managed?

Reducing Oxalate

Management of hyperoxaluria and oxalosis is based on the type, symptoms, and severity of the condition. Management will depend on the patient’s needs and how well he or she responds to therapy.

The primary goal of management is to prevent or reduce the buildup of calcium oxalate crystals in the kidneys. This is done via 3 main medications:

  • Prescription doses of vitamin B-6 
  • Neutral phosphates and citrate 
  • Thiazide diuretics 

Increasing water and other fluids is often suggested for people with normal kidney function. The extra fluid flushes the kidneys, prevents oxalate crystal buildup, and helps prevent kidney stones from forming. Importantly, drinking enough fluid will help reduce the chances of a kidney stone.

Changing the diet is often recommended for people with types of hyperoxaluria that can be improved with a diet low in oxalate. This may include restricting foods high in oxalate, limiting salt, decreasing sugar, and reducing animal protein such as meat, eggs, and fish. People who lower their oxalate intake need to remember to get enough calcium from food. These dietary restrictions may not be as important for people with primary hyperoxaluria. Patients should follow the advice of a doctor or registered dietitian.

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Dialysis

A person with severe hyperoxaluria may ultimately experience kidney failure. When this happens, a procedure called dialysis is used to replace some of the kidney’s function. Dialysis can clean toxins from the blood and remove extra fluids. There are two types of dialysis – hemodialysis and peritoneal dialysis.

Kidney dialysis is only a temporary treatment, since dialysis typically does not remove the amount of oxalate formed or absorbed in the body. Dialysis continues until a new kidney can be transplanted. While on dialysis, most patients with primary hyperoxaluria will continue to build up oxalate in body tissues.

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Kidney Stone Management

Kidney stones are common in people with hyperoxaluria, but they don’t always need to be treated. Depending on the diagnosis, a person may need only to take pain medication and drink lots of water to pass a kidney stone.

People with larger stones, or a stone that blocks urine flow and causes pain, may need other treatment. Urologists may perform the following treatments:

  • Shock wave lithotripsy, which crushes the kidney stone into smaller pieces
  • Ureteroscopy, which involves a long tube-like instrument that the urologist uses to find and retrieve the stone with a small basket or to break up the stone with laser energy
  • Percutaneous nephrolithotomy, which is used to locate and remove the stone through a small incision in the patient's back

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Organ Transplants

For patients with kidney failure, a transplant may be necessary. Depending on the type and severity of hyperoxaluria, a kidney transplant or kidney and liver transplant may be needed. The type of transplant is based on each patient’s own situation.

You can learn more about becoming an organ donor through the organization Donate Life.

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