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Therapeutic Areas - Primary Hyperoxaluria Type 1 (PH1)

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Primary Hyperoxaluria Type 1 (PH1)

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Primary Hyperoxaluria Type 1 (PH1) is a rare, metabolic disorder caused by alanine-glyoxylate aminotransferase (AGXT) gene mutations that result in a deficiency of liver-specific peroxisomal alanine-glyoxylate aminotransferase (AGT) and consequent overproduction of oxalate by the liver. Continuous oxalate overproduction may lead to progressive damage in the kidneys and other organs.1,2

Resources

Infographic

Diagnosing PH1 Infographic

This infographic discusses the clinical and demographic presentation of a PH1 patient and how to assess for PH1 diagnosis

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Handout

Potential Predictors of PH1 in Pediatric Patients

The handout details potential clinical characteristics that pediatric patients may present with which should warrant suspicion for PH1

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Handout

Diagnosis of PH1 in CKD or Dialysis Patients

This handout informs the consequences of PH1 systemic manifestations due to declining kidney function and how to diagnose PH1

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Handout

The Unpredictable Progression of PH1

This handout details the potential progressive decline of kidney function in PH1, which mostly results in end-stage kidney disease

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References:

  1. Fargue S, Acquaviva Bourdain C. Clin Kidney J. 2022;15(Suppl 1):i4-i8.
  2. Hoppe B, Beck BB, Milliner DS. Kidney Int. 2009;75(12):1264-1271.

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Congresses & Publications  

Learn more about Alnylam's scientific data in PH1

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Science of RNAi

To explore educational resources on RNAi

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Alnylam Therapies  

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