Primary Hyperoxaluria Type 1 (PH1)
Primary Hyperoxaluria Type 1 (PH1) is a rare metabolic disorder caused by mutations in the alanine glyoxylate aminotransferase (AGXT) gene that result in a deficiency of liver-specific peroxisomal alanine glyoxylate aminotransferase (AGT) and consequent overproduction of oxalate by the liver. When the kidneys can no longer clear excess oxalate, calcium oxalate (CaOx) crystals deposit in other tissues, leading to systemic oxalosis.
Resources
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Leaflet
Potential Predictors of PH1 in Paediatric Patients
The leaflet details potential clinical characteristics that paediatric patients may present with which should warrant suspicion for PH1.
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Leaflet
Diagnosis of PH1 in CKD or Dialysis Patients
The leaflet details potential clinical characteristics that pediatric patients may present with which should warrant suspicion for PH1
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Leaflet
The Unpredictable Progression of PH1
This leaflet details the potential progressive decline of kidney function in PH1, which mostly results in end-stage renal disease.
Therapies
OXLUMO® (lumasiran)
Explore clinical and educational resources related to the use of vutrisiran in adult patients with polyneuropathy of ATTRv (also known as hATTR) amyloidosis or with cardiomyopathy of wild-type or ATTRv amyloidosis.
Congresses
Primary Hyperoxaluria Type 1 (PH1)
European Society for Paediatric Nephrology (ESPN) 2025
Primary Hyperoxaluria Type 1 (PH1)
American Society of Nephrology (ASN) 2025
Primary Hyperoxaluria Type 1 (PH1)
International Paediatric Transplant Association (IPTA) 2025
Publications
Primary Hyperoxaluria Type 1 (PH1)
Efficacy and Safety of Lumasiran for Advanced Primary Hyperoxaluria Type 1: 24-Month Follow-Up of the Phase 3 Illuminate-C Trial
American Journal of Kidney Diseases
