Renal amyloidosis caused by apolipoprotein A-II without a genetic mutation in the coding sequence

Ryuji Morizane, Toshiaki Monkawa, Konosuke Konishi, Akinori Hashiguchi, Mitsuharu Ueda, Yukio Ando, Hirobumi Tokuyama, Koichi Hayashi, Matsuhiko Hayashi, Hiroshi Itoh

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Although the majority of renal amyloidosis is caused by either acquired monoclonal immunoglobulin light-chain amyloidosis or reactive systemic amyloid A, some cases are caused by hereditary amyloidosis. Apolipoprotein A-II (apoAII) amyloidosis is a rare form of hereditary amyloidosis and cannot be diagnosed by a routine examination. Thus, the prevalence and etiology of apoAII amyloidosis are uncertain. In humans, a genetic mutation in the stop codon of apoAII is considered to be a cause of amyloid fibril formation. We report on a 68-year-old man who presented with proteinuria by apoAII amyloidosis without family history. His proteinuria gradually increased to 6 g/day within 1 year. A renal biopsy showed amyloid deposition in the glomeruli, however, acquired monoclonal immunoglobulin light-chain amyloidosis and reactive systemic amyloid A were ruled out. Immunohistochemistry revealed apoAII deposition in the glomeruli, but DNA sequencing did not identify any genetic mutation in the coding sequence of apoAII. Here, we report a case of apoAII amyloidosis without a genetic mutation in the coding sequence and discuss the etiology of apoAII amyloidosis.

Original languageEnglish
Pages (from-to)774-779
Number of pages6
JournalClinical and Experimental Nephrology
Volume15
Issue number5
DOIs
Publication statusPublished - 2011 Oct

Fingerprint

Apolipoprotein A-II
Amyloidosis
Kidney
Mutation
Amyloid
Familial Amyloidosis
Immunoglobulin Light Chains
Proteinuria
Terminator Codon
Medical Genetics
DNA Sequence Analysis
Immunohistochemistry
Biopsy

Keywords

  • Amyloidosis
  • Apolipoprotein A-II
  • Nephrosis

ASJC Scopus subject areas

  • Nephrology
  • Physiology
  • Physiology (medical)

Cite this

Renal amyloidosis caused by apolipoprotein A-II without a genetic mutation in the coding sequence. / Morizane, Ryuji; Monkawa, Toshiaki; Konishi, Konosuke; Hashiguchi, Akinori; Ueda, Mitsuharu; Ando, Yukio; Tokuyama, Hirobumi; Hayashi, Koichi; Hayashi, Matsuhiko; Itoh, Hiroshi.

In: Clinical and Experimental Nephrology, Vol. 15, No. 5, 10.2011, p. 774-779.

Research output: Contribution to journalArticle

Morizane, Ryuji ; Monkawa, Toshiaki ; Konishi, Konosuke ; Hashiguchi, Akinori ; Ueda, Mitsuharu ; Ando, Yukio ; Tokuyama, Hirobumi ; Hayashi, Koichi ; Hayashi, Matsuhiko ; Itoh, Hiroshi. / Renal amyloidosis caused by apolipoprotein A-II without a genetic mutation in the coding sequence. In: Clinical and Experimental Nephrology. 2011 ; Vol. 15, No. 5. pp. 774-779.
@article{01c93ac53f43478d943bda4003b9ce55,
title = "Renal amyloidosis caused by apolipoprotein A-II without a genetic mutation in the coding sequence",
abstract = "Although the majority of renal amyloidosis is caused by either acquired monoclonal immunoglobulin light-chain amyloidosis or reactive systemic amyloid A, some cases are caused by hereditary amyloidosis. Apolipoprotein A-II (apoAII) amyloidosis is a rare form of hereditary amyloidosis and cannot be diagnosed by a routine examination. Thus, the prevalence and etiology of apoAII amyloidosis are uncertain. In humans, a genetic mutation in the stop codon of apoAII is considered to be a cause of amyloid fibril formation. We report on a 68-year-old man who presented with proteinuria by apoAII amyloidosis without family history. His proteinuria gradually increased to 6 g/day within 1 year. A renal biopsy showed amyloid deposition in the glomeruli, however, acquired monoclonal immunoglobulin light-chain amyloidosis and reactive systemic amyloid A were ruled out. Immunohistochemistry revealed apoAII deposition in the glomeruli, but DNA sequencing did not identify any genetic mutation in the coding sequence of apoAII. Here, we report a case of apoAII amyloidosis without a genetic mutation in the coding sequence and discuss the etiology of apoAII amyloidosis.",
keywords = "Amyloidosis, Apolipoprotein A-II, Nephrosis",
author = "Ryuji Morizane and Toshiaki Monkawa and Konosuke Konishi and Akinori Hashiguchi and Mitsuharu Ueda and Yukio Ando and Hirobumi Tokuyama and Koichi Hayashi and Matsuhiko Hayashi and Hiroshi Itoh",
year = "2011",
month = "10",
doi = "10.1007/s10157-011-0483-4",
language = "English",
volume = "15",
pages = "774--779",
journal = "Clinical and Experimental Nephrology",
issn = "1342-1751",
publisher = "Springer Japan",
number = "5",

}

TY - JOUR

T1 - Renal amyloidosis caused by apolipoprotein A-II without a genetic mutation in the coding sequence

AU - Morizane, Ryuji

AU - Monkawa, Toshiaki

AU - Konishi, Konosuke

AU - Hashiguchi, Akinori

AU - Ueda, Mitsuharu

AU - Ando, Yukio

AU - Tokuyama, Hirobumi

AU - Hayashi, Koichi

AU - Hayashi, Matsuhiko

AU - Itoh, Hiroshi

PY - 2011/10

Y1 - 2011/10

N2 - Although the majority of renal amyloidosis is caused by either acquired monoclonal immunoglobulin light-chain amyloidosis or reactive systemic amyloid A, some cases are caused by hereditary amyloidosis. Apolipoprotein A-II (apoAII) amyloidosis is a rare form of hereditary amyloidosis and cannot be diagnosed by a routine examination. Thus, the prevalence and etiology of apoAII amyloidosis are uncertain. In humans, a genetic mutation in the stop codon of apoAII is considered to be a cause of amyloid fibril formation. We report on a 68-year-old man who presented with proteinuria by apoAII amyloidosis without family history. His proteinuria gradually increased to 6 g/day within 1 year. A renal biopsy showed amyloid deposition in the glomeruli, however, acquired monoclonal immunoglobulin light-chain amyloidosis and reactive systemic amyloid A were ruled out. Immunohistochemistry revealed apoAII deposition in the glomeruli, but DNA sequencing did not identify any genetic mutation in the coding sequence of apoAII. Here, we report a case of apoAII amyloidosis without a genetic mutation in the coding sequence and discuss the etiology of apoAII amyloidosis.

AB - Although the majority of renal amyloidosis is caused by either acquired monoclonal immunoglobulin light-chain amyloidosis or reactive systemic amyloid A, some cases are caused by hereditary amyloidosis. Apolipoprotein A-II (apoAII) amyloidosis is a rare form of hereditary amyloidosis and cannot be diagnosed by a routine examination. Thus, the prevalence and etiology of apoAII amyloidosis are uncertain. In humans, a genetic mutation in the stop codon of apoAII is considered to be a cause of amyloid fibril formation. We report on a 68-year-old man who presented with proteinuria by apoAII amyloidosis without family history. His proteinuria gradually increased to 6 g/day within 1 year. A renal biopsy showed amyloid deposition in the glomeruli, however, acquired monoclonal immunoglobulin light-chain amyloidosis and reactive systemic amyloid A were ruled out. Immunohistochemistry revealed apoAII deposition in the glomeruli, but DNA sequencing did not identify any genetic mutation in the coding sequence of apoAII. Here, we report a case of apoAII amyloidosis without a genetic mutation in the coding sequence and discuss the etiology of apoAII amyloidosis.

KW - Amyloidosis

KW - Apolipoprotein A-II

KW - Nephrosis

UR - http://www.scopus.com/inward/record.url?scp=80755153233&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=80755153233&partnerID=8YFLogxK

U2 - 10.1007/s10157-011-0483-4

DO - 10.1007/s10157-011-0483-4

M3 - Article

C2 - 21728005

AN - SCOPUS:80755153233

VL - 15

SP - 774

EP - 779

JO - Clinical and Experimental Nephrology

JF - Clinical and Experimental Nephrology

SN - 1342-1751

IS - 5

ER -