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.
Treatment depends on the type, symptoms and severity of hyperoxaluria and how well you respond to treatment.
To reduce the amount of calcium oxalate crystal formation in your kidneys, your doctor may recommend one or more of these treatments:
- Medications. Prescription doses of vitamin B-6 can be effective in reducing oxalate in the urine in some people with primary hyperoxaluria. Oral preparations of phosphates and citrate help prevent the formation of calcium oxalate crystals. Other medications, such as thiazide diuretics, also may be considered, depending on which other abnormalities are present in your urine.
- High fluid intake. If your kidneys are still functioning normally, your doctor will likely tell you to drink more water or other fluids. This flushes the kidneys, prevents oxalate crystal buildup and helps keep kidney stones from forming.
- Dietary changes. In general, paying attention to your diet is more important if you have enteric or dietary hyperoxaluria. Your doctor may recommend changes to your diet including restricting foods high in oxalates, limiting salt, and decreasing animal protein and sugar (high fructose corn syrup). Dietary changes like these may help to lower the levels of oxalate in your urine. But dietary restrictions may not be effective for all people with primary hyperoxaluria. Follow your doctor's recommendations.
Kidney stone management
Kidney stones are common in people with hyperoxaluria, but they don't always need to be treated. If large kidney stones are causing pain or blocking urine flow, you may need to have them removed or broken up so they can pass in the urine.
Dialysis and transplantation
Depending on the severity of your hyperoxaluria, you may eventually lose kidney function. Kidney dialysis may help temporarily, but it doesn't keep up with the amount of oxalate produced. A kidney transplant or kidney and liver transplant can cure certain inherited types of hyperoxaluria (primary hyperoxaluria).
Preparing for your appointment
For treatment of kidney stones associated with hyperoxaluria, you may start by seeing your family doctor. If you have large, painful kidney stones or stones that are damaging your kidneys, your doctor may refer you to a doctor who specializes in treating problems in the urinary tract (urologist or nephrologist).
What you can do
To prepare for your appointment:
- Ask if there's anything you need to do before your appointment, such as limit your diet.
- Write down your symptoms, including any that may seem unrelated to your condition.
- Keep track of how much you drink and urinate during a 24-hour period.
- Make a list of all medications, vitamins or other supplements that you take.
- Take a family member or friend along, if possible, to help you remember what you discuss with your doctor.
- Write down questions to ask your doctor.
For hyperoxaluria, some basic questions include:
- What's the likely cause of my symptoms?
- Are there any other possible causes?
- What kinds of tests might I need?
- Do I have kidney stones?
- What type of kidney stones do I have?
- Where are the kidney stones located? How big are they?
- What are the possible treatments for my condition?
- How can I prevent kidney stones in the future?
- I have other health conditions. How can I best manage them together?
- Do I need to plan for follow-up visits?
- Do you have any educational materials that I can take with me? What websites do you recommend?
Besides the questions you prepare in advance, don't hesitate to ask other questions during your appointment as they occur to you.
What to expect from your doctor
Your doctor may ask questions such as:
- When did you first notice your symptoms?
- Do your symptoms happen all the time or only once in a while?
- How severe are your symptoms?
- Does anything seem to help ease your symptoms?
- Does anything seem to make your symptoms worse?
- Has anyone else in your family had kidney stones?