What is primary
hyperoxaluria type 1 (PH1)?
PH is a rare inherited disorder that can lead to kidney damage
PH is a rare disease in which the liver does not make enough of a certain protein to prevent oxalate (a natural waste product) from building up in the body.
PH is an inherited (genetic) disease, meaning it is caused by a change in a gene that is passed down from both parents to a child.
PH affects both children and adults.
There are 3 types of PH: PH1, PH2, and PH3.
- PH1 is the most commonly clinically diagnosed type of PH.
PH1 may affect people differently or change over time
Kidney stones are the most common symptom of PH1, but stones aren’t the only symptom of the disease.
PH1 can cause kidney damage that may progress to end-stage kidney disease, requiring dialysis and possible liver-kidney transplant.
Over time, PH1 can lead to systemic oxalosis, a condition that affects organs throughout the body, including the eyes, heart, skin, and bones.
Different people can experience different symptoms from PH1. This is one of the factors that can lead to delays in diagnosis or misdiagnosis.
In PH1, overproduction of oxalate can lead to progressive kidney damage
When too much oxalate is made in the liver, the kidneys are not able to eliminate (remove) enough of it in urine. This causes oxalate to attach to calcium, forming crystals inside the kidneys. These crystals can group together to form kidney stones.
Liver
In people with PH1, the liver doesn’t make enough of a certain protein.
Oxalate
Without enough of this protein, the liver makes too much oxalate.
Kidney
Too much oxalate can lead to the formation of kidney stones and damage to the kidneys.
Intervention can help lower and keep oxalate levels under control
Even in the absence of symptoms, oxalate can continue to build up and cause damage throughout the body in people with PH1. Most standard treatments for PH1 do not address the underlying cause of the disease. Other approaches can.
PH1 runs in families
Genetic testing for PH1 is important
If your doctor suspects you have PH1, they may recommend genetic testing.
Genetic testing can identify:
- if someone has PH
- which type of PH they have
- if someone is a genetic carrier of PH
