A patient with apolipoprotein E2 variant (Q187E) without lipoprotein glomerulopathy.
Four apolipoprotein (apo) E variants have been reported to be associated with lipoprotein glomerulopathy (LPG), which is characterized by type III hyperlipoproteinemia (type III HLP) and proteinuria and frequently leads to nephrotic syndrome. We report the histologic findings in the kidneys of a type III HLP patient with an apo E variant, apo E Toranomon, in which the glutamine at residue 187 in apo E is substituted by glutamic acid (Q187E). The patient also had type 2 diabetes mellitus. No evidence of lipoprotein thrombi suggestive of LPG was detected, however, and the histologic diagnosis was diabetic nephrosclerosis. This unique case illustrates that not all apo E variants result in LPG, and the location of mutations in the apo E protein is one of the important determinants for the development of LPG.
Hayakawa
Mikito
M
Department of Endocrinology and Metabolism, Kidney Center, Toranomon Hospital, Tokyo, Japan.
Okubo
Minoru
M
Katori
Hideyuki
H
Nagahama
Kiyotaka
K
Murase
Toshio
T
Kobayashi
Tetsuro
T
Tanaka
Shoichiro
S
Nakanishi
Koji
K
Odawara
Masato
M
Matsushita
Hiroshi
H
Yamada
Akira
A
D001057:Apolipoproteins E / Q000235:genetics*; D048909:Diabetes Complications; D003928:Diabetic Nephropathies / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009400:Nephrosclerosis / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation
D001057:Apolipoproteins E