WT1 mutation and steroid-resistant nephrotic syndrome associated with cortical nephrocalcinosis

Abstract

When compared to medullary nephrocalcinosis, cortical nephrocalcinosis is a rare and usually secondary to acute cortical necrosis or chronic glomerulonephritis. Here, we report two paediatric cases in which cortical nephrocalcinosis developed during the course of persistent nephrotic syndrome due to focal segmental glomerulosclerosis associated with an intronic mutation in the WT1 gene. The cause of development of cortical nephrocalcinosis was uncertain in both patients. This is the first case report of WT1 mutation-related glomerulopathy associated with cortical nephrocalcinosis, although it is currently unclear if the association is coincidental or causally related. © 2009 The Author. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.