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Symptoms Related to Hyperoxaluria and Oxalosis
The first signs of hyperoxaluria may appear any time from birth to early adulthood, and vary from mild to severe. Depending on the severity, the first sign of hyperoxaluria is typically kidney stones. Large amounts of oxalate in the urine bind with calcium in the urine to form calcium oxalate stones. This process usually begins in early childhood before 10 years of age. If a kidney stone gets stuck in the urinary tract, it may cause an infection. Symptoms of a kidney stone may include:

  • Severe or sudden abdominal or flank pain
  • Blood in the urine
  • Urge to urinate often
  • Pain when urinating
  • Fever and chills

Since kidney stones do not always cause symptoms, sometimes the stones are found during imaging of the abdomen by x-ray, ultrasound, or CT scan performed for other reasons. In some patients, symptoms related to kidney stones do not occur until they are young adults. In a smaller number of patients with primary hyperoxaluria, calcium oxalate deposits throughout the kidney (nephrocalcinosis). Since kidney stones are uncommon in childhood, all children and adolescents who have symptoms of kidney stones or are diagnosed with kidney stones or nephrocalcinosis should be screened for hyperoxaluria. If hyperoxaluria is found, children can then be checked for primary hyperoxaluria with more specialized testing.

If primary hyperoxaluria goes untreated, the kidneys will eventually be damaged and may stop working. Over time, most untreated patients will develop kidney failure. The most frequent time at which this occurs, is from 15-30 years of age. However, a few patients may develop kidney failure as early as infancy, while others may not show kidney damage until 40-60 years of age. Signs of kidney failure include:

  • A decrease in or no urine output
  • General ill feeling, tiredness, and marked fatigue
  • Nausea, vomiting
  • Anemia
  • Young children may fail to develop and grow normally

Sometimes, a patient may have already progressed to oxalosis and, during an eye examination, his or her ophthalmologist may discover oxalate crystals in the patient's eyes. Oxalosis in its late stages will cause bone disease, the result of oxalate crystals depositing in the bones and joints. It may also cause anemia that is difficult to treat, skin ulcers, and heart problems.

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