Thursday, December 10, 2020 -
12:00 to 13:00
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.