Disease: Hyperoxaluria and oxalosis

Overview

Hyperoxaluria occurs when you have too much oxalate in your urine. Oxalate is a natural chemical in your body, and it's also found in certain types of food. But too much oxalate in your urine can cause serious problems.

Hyperoxaluria can be caused by inherited (genetic) disorders, an intestinal disease or eating too many oxalate-rich foods. The long-term health of your kidneys depends on early diagnosis and prompt treatment of hyperoxaluria.

Oxalosis happens after the kidneys fail in people who have primary and intestinal causes of hyperoxaluria, and excess oxalate builds up in the blood. This can lead to oxalate deposits in blood vessels, bones and body organs.

Hyperoxaluria and oxalosis care at Mayo Clinic

Source: http://www.mayoclinic.com

Symptoms

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

  • Severe or sudden back pain
  • Pain in 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

When to see a doctor

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.

All young people with kidney stones should see a doctor for a thorough evaluation, including a test that measures oxalate in the urine. Adults with recurrent kidney stones also should be evaluated for oxalate in the urine.

Source: http://www.mayoclinic.com

Causes

Hyperoxaluria occurs when there is too much of a substance called oxalate in the urine. There are several types of hyperoxaluria:

  • Primary hyperoxaluria. Primary hyperoxaluria is a rare inherited (genetic) condition present at birth. In this type, the liver doesn't create enough of a certain protein (enzyme) that prevents overproduction of oxalate, or the enzyme doesn't work properly. Excess oxalate is eliminated through your kidneys, in your urine. The extra oxalate can combine with calcium to create kidney stones and crystals, which can damage the kidneys and cause them to stop working (renal failure).

    Kidney stones form early and most often cause symptoms during childhood or adolescence. Because of the very large amounts of oxalate produced, the kidneys of many people with primary hyperoxaluria fail by early to middle adulthood. But renal failure can occur as early as infancy, while others with primary hyperoxaluria never develop kidney failure. To date, experts have identified three different genetic causes of primary hyperoxaluria.

  • Oxalosis. Oxalosis occurs if you have primary hyperoxaluria and your kidneys fail. Because your body can no longer eliminate the extra oxalate, it starts accumulating — first in your blood, then in your eyes, bones, skin, muscles, blood vessels, heart and other organs. This can cause multiple problems.
  • Enteric hyperoxaluria. Several intestinal diseases, including Crohn's disease and short bowel syndrome as a result of surgical procedures, increase the absorption of oxalate from foods, which can then increase the amount of oxalate excreted in the urine.
  • Hyperoxaluria related to eating high-oxalate foods. Eating large amounts of foods high in oxalate can increase your risk of hyperoxaluria or kidney stones. Ask your doctor or dietitian for a list of high-oxalate foods. Avoiding high-oxalate foods is particularly important if you have enteric hyperoxaluria.

Source: http://www.mayoclinic.com

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.

Source: http://www.mayoclinic.com

Complications

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:

  • Decreased 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.

Source: http://www.mayoclinic.com

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