A new apolipoprotein e mutation, apoE Las Vegas, in a European-American with lipoprotein glomerulopathy
Document Type
Journal Article
Publication Date
10-1-2010
Journal
Nephrology Dialysis Transplantation
Volume
25
Issue
10
DOI
10.1093/ndt/gfq389
Keywords
dyslipidaemia; genetics; glomerulonephritis
Abstract
Lipoprotein glomerulopathy is a rare disease diagnosed by unique histopathologic findings of glomerular capillary dilatation by lipoprotein thrombi. The disease is caused by mutations in apoE, the gene that encodes apolipoprotein E. To date, <80 cases have been reported in the medical literature, nearly all of which are from Japan or China. Only five cases from the United States have previously been reported, of which three patients were of European ancestry. Here, we present the fourth case of lipoprotein glomerulopathy in a European-American man. Whereas prior European-American patients with lipoprotein glomerulopathy were found to have the previously reported apoE Kyoto genotype, the patient presented here was found to have a novel mutation that we have named apoE Las Vegas. © The Author 2010. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.
APA Citation
Bomback, A., Song, H., D'Agati, V., Cohen, S., Neal, A., Appel, G., & Rovin, B. (2010). A new apolipoprotein e mutation, apoE Las Vegas, in a European-American with lipoprotein glomerulopathy. Nephrology Dialysis Transplantation, 25 (10). http://dx.doi.org/10.1093/ndt/gfq389