Primary hyperoxaluria is a condition characterized by frequent kidney and bladder stones, due to the accumulation of oxalate.
There are three types of primary hyperoxaluria defined by severity and the underlying genetic cause. Primary hyperoxaluria type 2 (PH2) is caused by reduced levels of the glyoxylate and hydroxypyruvate reductase (GR/HPR) enzyme. PH2 is most common in individuals of European or Asian descent.
Take this test to find out if you are a genetic carrier of a GRHPR variant and are at risk of passing it to your children.
PH2 is caused by genetic variants in the GRHPR gene, which inhibit the activity of the glyoxylate and hydroxypyruvate reductase (GR/HPR) enzyme. This leads to the buildup of glyoxylate, which is converted to oxalate, and then calcium oxalate, the main component of kidney and bladder stones.
PH2 is inherited in an autosomal recessive pattern, which means two defective copies of the GRHPR gene must be inherited in order for the disease to manifest.
This test detects one genetic variant in the GRHPR gene, which is the most common causes of PH2 in individuals of European descent, (occurring in 68% of carriers of this ethnicity).
Understanding your carrier status for this variant will help you understand the risk of passing it to your children.
- Kidney stones
- Blood in urine
- Abdominal pain (renal colic)
- Obstruction of the urinary tract
- Nephrocalcinosis (recurrent deposition of calcium oxalate stones in the kidney and the urinary tract)
- Nephrolithiasis (deposition of stones in the kidney tissue)
- End stage renal disease (ESRD)
- Widespread deposition of calcium oxalate in tissue (systemic oxalosis)
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