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

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
Andrew S BombackBrad H Rovin

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.

References

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Dec 14, 2007·The New England Journal of Medicine·Brad H RovinMelvin M Schwartz

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Citations

Feb 15, 2013·Journal of Human Genetics·Kentaro ToyotaKiyoshi Hayasaka
Apr 6, 2011·Current Opinion in Lipidology·Vasilis Tsimihodimos, Moses Elisaf
Apr 7, 2011·Journal of Atherosclerosis and Thrombosis·Takehiko TokuraNaoki Kashihara
Feb 27, 2014·Clinical and Experimental Nephrology·Akira Matsunaga, Takao Saito
Jul 10, 2019·Canadian Journal of Kidney Health and Disease·Nasma K MajeedMiguel Gonzalez
Dec 26, 2019·Kidney International·Takao SaitoEri Muso
Jul 28, 2021·Diagnostic Pathology·Joaquim Nelito da Silveira-NetoLuiz Fernando Onuchic

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