Journal Article

A new apolipoprotein E mutation, <i>apoE</i> Las Vegas, in a European-American with lipoprotein glomerulopathy

Andrew S. Bomback, Huijuan Song, Vivette D. D'Agati, Scott D. Cohen, Alison Neal, Gerald B. Appel and Brad H. Rovin

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 25, issue 10, pages 3442-3446
Published in print October 2010 | ISSN: 0931-0509
Published online July 2010 | e-ISSN: 1460-2385 | DOI: http://dx.doi.org/10.1093/ndt/gfq389
A new apolipoprotein E mutation, apoE Las Vegas, in a European-American with lipoprotein glomerulopathy

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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.

Keywords: dyslipidaemia; genetics; glomerulonephritis

Journal Article.  2349 words.  Illustrated.

Subjects: Nephrology

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