WHAT MORE MAY BE
BEHIND THE STONE?
Recurrent kidney stones in an adult, any kidney stone in a child, nephrocalcinosis, and renal failure may all be signs of a metabolic stone disease, such as primary hyperoxaluria type 1 (PH1).1
Kidney stones may be a red flag1
PH1 is a progressive genetic disease which is potentially life-threatening4,5
The primary hyperoxalurias (PHs) are a group of genetic diseases that lead to overproduction of oxalate in the liver.5 The most severe form of PH is PH1, which accounts for approximately 70% to 80% of PH cases.2,5,6 Complications from PH1 can be fatal.4 Often marked by kidney stones, PH1 is a progressive genetic disease caused by mutations in the AGXT gene that render the liver enzyme alanine:glyoxylate aminotransferase (AGT) dysfunctional.5 Normally, AGT processes glyoxylate, which is generated by another liver enzyme, glycolate oxidase (GO).4,5
Here’s how PH1 affects the body. Identify Clinical Manifestations