APRT Deficiency: Prevalence and Clinical Outcomes

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Physiology
WHEN
10. December 2020
12:00 til 13:00
WHERE
Online
Zoom
FURTHER INFORMATION

BMC Seminar Thursday 10 December, 12:00

Speaker: Hrafnhildur Linnet Runólfsdóttir, PhD. Resident, Internal Medicine Services, Landspitali - The National University Hospital of Iceland.

Title: APRT Deficiency: Prevalence and Clinical Outcomes

Abstract: Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder that results in the generation and renal excretion of large amounts of 2,8-dihydroxyadenine (DHA), causing kidney stones and crystal nephropathy which can progress to end-stage kidney disease (ESKD). Treatment with the xanthine oxidoreductase (XOR) inhibitors allopurinol and febuxostat reduces DHA generation and attenuates renal manifestations. In this seminar I will discuss the prevalence of APRT deficiency, long-term renal outcomes and the effects of treatment in patients with the disorder.

Zoom link: https://eu01web.zoom.us/j/62605517179#success

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Hrafnhildur Linnet Runólfsdóttir, PhD. Resident, Internal Medicine Services, Landspitali - The National University Hospital of Iceland.

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Hrafnhildur Linnet Runólfsdóttir