Primary hyperoxaluria type 1

Primary hyperoxaluria type 1 (PH1) is an inherited disorder caused by a mutation in the AGXT gene. It is characterised by the overproduction of oxalate and its accumulation in the kidneys and urinary tract.

Common questions about PH1

How prevalent is PH1?

PH1 has an estimated prevalence of one to three per million and is therefore considered a rare disease.

Who is most at risk?

PH1 is an autosomal recessive condition, meaning both parents must either have the condition or one AGXT gene variant.

Is there a treatment for PH1?

The primary aim of PH1 treatment is to clear oxalate and slow down kidney function decline. Treatment options therefore include hyperhydration and intensive dialysis. Two small interfering RNAs (nedosiran and lumasiran) designed to lower urinary oxalate levels have been approved by the US Food and Drug Administration (FDA) for the treatment of PH1. In more severe cases, liver transplantation can correct the faulty AGXT gene, and/or a kidney transplant may be required.

How does PH1 impact people with the disorder?

The occurrence of recurrent kidney stones in PH1 is associated with heavy symptom burden, including excretion of blood in the urine, painful urination, abdominal pain, urinary tract blockages and frequent urinary tract infections. People who have progressed to chronic kidney disease will experience additional symptoms, such as impaired cognitive and physical abilities, fatigue, sleep disturbance and pain.