CEN Case Reports

, Volume 7, Issue 1, pp 127–131 | Cite as

A case of lipoprotein glomerulopathy with a rare apolipoprotein E isoform combined with neurofibromatosis type I

  • Satoshi Takasaki
  • Akira Matsunaga
  • Kensuke Joh
  • Takao Saito
Case Report
  • 42 Downloads

Abstract

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.

Keywords

ApoE5 ApoE-Sendai Lipoprotein glomerulopathy Neurofibromatosis type I 

Notes

Compliance with ethical standards

Conflict of interest

All the authors have declared no competing interest.

Research involving human participants and/or animals

This article does not contain any studies with human participants performed by any of the authors.

Informed consent

Written informed consent was obtained from the patient before the commencement of phenotype and gene analyses for apoE.

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Copyright information

© Japanese Society of Nephrology 2018

Authors and Affiliations

  1. 1.Department of Internal MedicineSaiseikai Yamagata Saisei HospitalYamagataJapan
  2. 2.Department of Laboratory MedicineFukuoka University School of MedicineFukuokaJapan
  3. 3.Department of PathologyTohoku University Graduate School of MedicineSendaiJapan
  4. 4.Sanko ClinicFukuokaJapan

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