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A case of lipoprotein glomerulopathy with a rare apolipoprotein E isoform
combined with neurofibromatosis type I
#MMPMID29356944
Takasaki S
; Matsunaga A
; Joh K
; Saito T
CEN Case Rep
2018[May]; 7
(1
): 127-131
PMID29356944
show ga
Lipoprotein glomerulopathy (LPG) is a rare inherited disease characterized by
histopathological features of lipoprotein thrombi in dilated glomerular
capillaries and type III like hyperlipoproteinemia with heterozygous mutation of
the apolipoprotein (apo) E gene. We herein present the case of a 50-year-old
woman with LPG complicated by neurofibromatosis type 1 (NF1). To the best of our
knowledge, this is the first report of a case of LPG complicated by NF1. On the
other hand, she had not only a heterozygous apoE-Sendai mutation, which is one of
the most frequent apoE variants in LPG patients, but also a rare isoform of ApoE5
(Glu3Lys). Although apoE mutation has been recognized as having a principal role
in the pathogenesis of LPG, some other factors are assumed to be present in the
pathogenesis of LPG, because many asymptomatic carriers of apoE variants are
recognized. The coexistence of NF1 or apoE5 (Glu3Lys) allele might play a role as
an additional factor in the development of LPG.
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