What is primary hyperoxaluria?
What is primary hyperoxaluria?
Primary hyperoxaluria (PH) is a group of rare genetic metabolic disorders that are characterized by the accumulation of a substance known as oxalate in the kidneys and other organ systems of the body. Affected individuals lack functional levels of a specific enzyme that normally prevents the accumulation of oxalate.
Is there a cure for primary hyperoxaluria?
Because of these complications, prompt diagnosis and early treatment is important to the prognosis. There is no cure for primary hyperoxaluria. The goal is to protect the kidneys by preventing the development of kidney stones and prevent calcium oxalate from forming and depositing in other body tissues.
What are the symptoms of PH1?
About 10% of people with PH1 get their first symptoms between infancy and early childhood….Symptoms of kidney or urinary tract stones include:
- Blood in the urine.
- Pain when you pee.
- Need to pee often.
- Belly pain.
- Many urinary tract infections.
- Blocked urinary tract.
- Sudden, serious back pain.
- Chills.
What causes 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.
How do you diagnose primary hyperoxaluria?
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.
How common is primary hyperoxaluria?
Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals worldwide. Type 1 is the most common form, accounting for approximately 80 percent of cases.
Is PH1 curable?
Currently, the only curative treatment for PH1 is a liver transplant. If the patient has already progressed to kidney failure, then a dual liver/kidney transplant is required.
What causes PH1?
PH1 is caused by mutations (changes) in the alanine glyoxylate aminotransferase (AGXT) gene, which leads to excess oxalate in the body. Oxalate is a substance normally filtered by the kidneys and removed in the urine. But in PH1, oxalate builds up in the kidneys and urinary tract.