A new apolipoprotein E mutation, apoE Las Vegas, in a European-American with lipoprotein glomerulopathy.
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.
Bomback
Andrew S
AS
Division of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA. asb68@columbia.edu
Song
Huijuan
H
D'Agati
Vivette D
VD
Cohen
Scott D
SD
Neal
Alison
A
Appel
Gerald B
GB
Rovin
Brad H
BH
D000328:Adult; D001057:Apolipoproteins E / Q000235:genetics*; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics* / Q000473:pathology; D007678:Kidney Glomerulus / Q000473:pathology*; D008074:Lipoproteins / Q000378:metabolism*; D008297:Male; D009154:Mutation
D001057:Apolipoproteins E; D008074:Lipoproteins