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
Kidney stones in some patients may be a clinical manifestation of a metabolic stone disease, such as PH1.1
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
TAKE A CLOSER LOOK
The Skinner family’s PH1 journey started with Claire, who showed signs of PH1 as an infant. After Claire was diagnosed, tests revealed that two of her siblings also had PH1. Neither sibling had clinical manifestations at the time of their diagnoses.