Article
Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Mar 2012
Dinour Dganit, Gray Nicola K, Ganon Liat, Knox Andrew J S, Shalev Hanna, Sela Ben-Ami, Campbell Susan, Sawyer Lindsay, Shu Xinhua, Valsamidou Evgenia, Landau Daniel, Wright Alan F, Holtzman Eliezer J
Abstract excerpt
BACKGROUND: Elevated serum uric acid (UA) is associated with gout, hypertension, cardiovascular and renal disease. Hereditary renal hypouricemia type 1 (RHUC1) is caused by mutations in the renal tubular UA transporter URAT1 and can be complicated by nephrolithiasis and exercise-induced acute renal failure (EIARF). We have recently shown that loss-of-function homozygous mutations of another UA transporter, GLUT9,...
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