Written by Primary hyperoxaluria (PH) is a rare group of genetic disorders that cause the body to produce too much oxalate. Oxalate is a naturally occurring substance found in many foods, but it is also produced by the body. When oxalate levels are too high, it can form crystals in the urine, which can lead to kidney stones and other health problems.
Types of primary hyperoxaluria
There are three main types of primary hyperoxaluria:
- Type 1: This is the most common type of primary hyperoxaluria and is caused by a deficiency in the enzyme alanine:glyoxylate aminotransferase (AGT).
- Type 2: This type of primary hyperoxaluria is caused by a deficiency in the enzyme glyoxylate reductase/D-glycerate dehydrogenase (GRDH).
- Type 3: This type of primary hyperoxaluria is caused by a deficiency in the enzyme hydroxyproline dehydrogenase (HPD).
Symptoms of primary hyperoxaluria
The symptoms of primary hyperoxaluria can vary depending on the type of disorder and the severity of the disease. However, some of the most common symptoms include:
- Kidney stones
- Blood in the urine
- Pain in the back or sides
- Fatigue
- Nausea and vomiting
- Weight loss
- Joint pain
- Eye problems
- Skin problems
Diagnosis of primary hyperoxaluria
Primary hyperoxaluria can be diagnosed with a number of tests, including:
- Blood tests to measure oxalate levels
- Urine tests to measure oxalate levels and look for kidney stones
- Imaging tests, such as X-rays or CT scans, to look for kidney stones or other complications
- Genetic testing to confirm the diagnosis
Treatment of primary hyperoxaluria
There is no cure for primary hyperoxaluria, but there are treatments that can help to manage the symptoms and prevent complications. The main treatment for primary hyperoxaluria is a combination of diet and medication.
Diet changes can help to reduce the amount of oxalate that is absorbed into the body. People with primary hyperoxaluria should avoid foods that are high in oxalate, such as spinach, rhubarb, and chocolate. They should also drink plenty of fluids to help flush oxalate out of the body.
Medications can be used to lower oxalate levels in the blood and urine. Some of the medications that are used to treat primary hyperoxaluria include:
- Pyridoxine (vitamin B6)
- Potassium citrate
- Magnesium citrate
- Lumasiran
- Ravulizumab
In some cases, people with primary hyperoxaluria may need a kidney transplant.
Prognosis for primary hyperoxaluria
The prognosis for primary hyperoxaluria varies depending on the type of disorder and the severity of the disease. However, with early diagnosis and treatment, most people with primary hyperoxaluria can live long and productive lives.
If you are concerned that you or your child may have primary hyperoxaluria, talk to your doctor.