Primary hyperoxaluria
Primary hyperoxaluria is a rare condition characterized by the overproduction of a substance called oxalate (oxalic acid). Individuals with primary hyperoxaluria have a deficiency of the enzyme that normally breaks down oxalate in the liver. This leads to an accumulation of oxalate in the body, which can form crystals in the kidneys and other organs. Primary hyperoxaluria is a genetic condition, passed down through families.
Symptoms[edit | edit source]
The symptoms of primary hyperoxaluria can vary greatly from person to person. Some individuals may have no symptoms, while others may experience severe kidney problems. Symptoms can include:
- Blood in the urine (Hematuria)
- Frequent urination
- Pain in the back or abdomen
- Kidney stones
- Kidney failure
Causes[edit | edit source]
Primary hyperoxaluria is caused by mutations in the AGXT, GRHPR, or HOGA1 genes. These genes provide instructions for making enzymes that are involved in the breakdown of a certain protein building block (amino acid) called glyoxylate. In people with primary hyperoxaluria, these enzymes are either missing or not working correctly, leading to an accumulation of glyoxylate, which is converted into oxalate.
Diagnosis[edit | edit source]
Diagnosis of primary hyperoxaluria is based on the symptoms, medical history, and laboratory tests. These tests can include:
- Urine tests to check for high levels of oxalate and glycolate
- Blood tests to check kidney function
- Genetic testing to identify mutations in the AGXT, GRHPR, or HOGA1 genes
Treatment[edit | edit source]
Treatment for primary hyperoxaluria aims to reduce the amount of oxalate in the body and prevent kidney damage. This can include:
- High fluid intake to help flush out the kidneys
- Medications to reduce the amount of oxalate in the urine
- Dialysis to remove excess oxalate from the blood
- In severe cases, a liver or kidney transplant may be necessary
See also[edit | edit source]
References[edit | edit source]
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