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

PH1 overview

Declaration of sponsorship Alnylam Pharmaceuticals
Read time: 30 mins
Last updated:6th Apr 2021
Published:6th Apr 2021
Have you considered the burden excess oxalate places on patients, beyond the damage to the kidney?

Primary hyperoxaluria type 1 (PH1) is a life-limiting disease of oxalate overproduction, in which patients can present with a wide spectrum of clinical manifestations, from kidney stones to end-stage kidney disease (ESKD) to oxalate deposition in the eyes, heart and skin1,2. Early intervention is imperative and this resource will detail the pathophysiology of PH1, offer typical patient presentations and give a review of current management options.

Oxalate is formed in the liver in response to excess glyoxylate, which is generated by glycolate oxidase (GO) through the oxidation of glycolate, a product of intermediary metabolism derived largely from endogenous collagen1,3,5.

In healthy humans, most glyoxylate is converted to glycine by the vitamin B6-dependent peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT)5.

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The overproduction of oxalate by the liver, due to a faulty AGT gene, causes progressive damage to the kidneys, renal failure and – in severe cases – widespread deposits in vital organs around the body1

The median age of onset is 5.5 years, with PH1 accounting for 1–2% of paediatric ESKD1. However, while clinical presentations can be seen in infancy, including nephrocalcinosis and failure to thrive, PH1 can occur at almost any age, from birth to later decades of life1.

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Register for free access to this exclusive healthcare learning resource


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Develop your knowledge with our disease and condition focused Learning Zones

Access content from credible sources, including expert-led commentary, videos, podcasts, and webinars as well as clinical trials, treatment information and guidelines 

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Developed by EPG Health for Medthority.com, with all content provided by Alnylam Pharmaceuticals. Learning Zone sponsored and funded by Alnylam Pharmaceuticals. Please note that this material is intended for healthcare professionals only. 

Date of preparation: February 2021 │ OXL-CEMEA-00012

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