Abstract

A 79-year-old man was admitted to our hospital for proteinuria due to nephrotic syndrome. Renal biopsy revealed focal sclerosis and foam cell infiltration in the glomerulus. In addition, electron microscopic findings (EM) revealed peculiar electrondense deposits (EDDs) in both sides of the glomerular basement membrane. Although subepithelial deposits had spike formation highly resembling those seen in membranous nephropathy (MN), immunoglobulins and complements were not identified by immunofluorescence study, and microbubbles appeared in high magnification of EM different from the immune disease. The analysis of apolipoprotein (Apo) E showed an elevated concentration of plasma ApoE. The phenotype, genotype, and DNA sequence studies revealed homozygous ApoE2/2 and a novel missense mutation called ApoE Toyonaka (Ser197Cys). This case may confirm the independent responsibility of ApoE2/2 and ApoE Toyonaka for ApoE2 homozygote glomerulopathy and MN-like EDD findings, respectively.

Author Details

Authors

• Hisako Hirashima¹
• Toshiyuki Komiya¹,²
• Naoya Toriu¹
• Shigeo Hara³
• Akira Matsunaga⁴
• Takao Saito⁵
• Eri Muso¹,⁶,⁷

Departments

• ¹ Division of Nephrology, Kansai Electric Power Hospital,
• ² Kansai Electric Power Medical Research Insitute, Osaka,
• ³ Department of Pathology, Kobe University School of Medicine, Hyogo,
• ⁴ Department of Laboratory Medicine, Faculty of Medicine, Fukuoka University,
• ⁵ Sanko Clinic, Fukuoka, Japan,
• ⁶ Division of Nephrology and Dialysis, Kitano Hospital, Tazuke Kofukai Medical Research Insitute, Osaka, and
• ⁷ Department of Pathological Diagnosis, Kyoto University Hospital, Kyoto, Japan

Address

Hisako Hirashima, MD, Division of Nephrology, Kansai Electric Power Hospital, 2-1-7 Fukushima, Fukushima-ku, Osaka-shi, Osaka-fu 553-0003, Japan
Email: [email protected]

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