Adult on Dialysis
Adult on Dialysis

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

More About PH1

Calcium Oxalate Stone - Kidney Stone

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Kidney stones may be a red flag1

Primary Hyperoxaluria Type 1 (PH1) Mechanism of Disease - Body Figures - Video Thumbnail

Kidney stones in some patients may be a clinical manifestation of a metabolic stone disease, such as PH1.1

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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

Primary Hyperoxaluria Type 1 (PH1) Mechanism of Disease - Liver-Kidney Interaction - Screen Grab

Here’s how PH1 affects the body. Identify Clinical Manifestations

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TAKE A CLOSER LOOK

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of PH1 patients may be undiagnosed due to the low index of suspicion of PH1, although data on prevalence are limited.7

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Primary Hyperoxaluria Type 1 (PH1) in Children - Family With PH1 - Disease Burden - Video Thumbnail

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.