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Diagnosis and management of primary hyperoxaluria type 1
Declaration of sponsorship Alnylam Pharmaceuticals


Declaration of sponsorship Alnylam Pharmaceuticals
Read time: 110 mins
Last updated:6th Apr 2021
Published:6th Apr 2021
Welcome to the primary hyperoxaluria type 1 (PH1) Learning Zone, which introduces the signs that raise suspicion of PH1 and discusses management options for this progressive, lethal disease.

PH1 is a life-limiting disease of oxalate overproduction that can affect adults and children and lead to recurrent urolithiasis, nephrocalcinosis and progressive renal decline, ultimately ending in end-stage kidney disease (ESKD) and death1. Both symptoms and management approaches place a significant burden on patients and families, including hyperhydration, intensive dialysis and even liver/kidney transplantation1,2.

This Learning Zone aims to provide an overview of PH1, including the pathophysiology of the disease, the burden on patients and families, and the current and upcoming management options. After working through this learning resource, you’ll be able to recognise the signs that might raise suspicion of PH1 and prompt diagnostic tests or referral to a specialist team.

Start exploring PH1


  1. Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013;369:649–58.
  2. Lawrence JE, Wattenberg DJ. Primary hyperoxaluria: the patient and caregiver perspective. Clin J Am Soc Nephrol. 2020;15(7):909–11.