PH1 overview
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.
In this section
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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References
- Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013;369:649–58.
- Milliner DS, Harris PC, Cogal AG, Lieske JC (2017). Primary Hyperoxaluria Type 1. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1283/ (accessed November 2020).
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Date of preparation: February 2021 │ OXL-CEMEA-00012
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