Málstofa Lífvísindaseturs - APRT Deficiency
Málstofa Lífvísindaseturs fimmtudaginn 10. desember, kl. 12:00
Fyrirlesari: Hrafnhildur Linnet Runólfsdóttir, PhD. Resident, Internal Medicine Services, Landspitali - The National University Hospital of Iceland.
Titill: APRT Deficiency: Prevalence and Clinical Outcomes
Ágrip: 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.
Hrafnhildur Linnet Runólfsdóttir, PhD. Resident, Internal Medicine Services, Landspitali - The National University Hospital of Iceland.
