Skip to main content
SpringerLink
Log in

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

  • Case Report
  • Published:
Clinical and Experimental Nephrology Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

  1. Lachmann HJ, Booth DR, Booth SE, Bybee A, Gilbertson JA, Gillmore JD, et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med. 2002;346:1786–91.

    Article  CAS  PubMed  Google Scholar 

  2. Dember LM. Amyloidosis-associated kidney disease. J Am Soc Nephrol. 2006;17:3458–71.

    Article  CAS  PubMed  Google Scholar 

  3. Murphy CL, Wang S, Kestler D, Larsen C, Benson D, Weiss DT, et al. Leukocyte chemotactic factor 2 (LECT2)-associated renal amyloidosis: a case series. Am J Kidney Dis. 2010;56:1100–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Ueda M, Misumi Y, Mizuguchi M, Nakamura M, Yamashita T, Sekijima Y, et al. SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy. Clin Chem. 2009;55:1223–7.

    Article  CAS  PubMed  Google Scholar 

  5. von Hutten H, Mihatsch M, Lobeck H, Rudolph B, Eriksson M, Röcken C. Prevalence and origin of amyloid in kidney biopsies. Am J Surg Pathol. 2009;33:1198–205.

    Article  Google Scholar 

  6. Higuchi K, Yonezu T, Kogishi K, Matsumura A, Takeshita S, Higuchi K, et al. Purification and characterization of a senile amyloid-related antigenic substance (apoSASSAM) from mouse serum apoSASSAM is an apoA-II apolipoprotein of mouse high density lipoproteins. J Biol Chem. 1986;261:12834–40.

    CAS  PubMed  Google Scholar 

  7. Higuchi K, Kitagawa K, Naiki H, Hanada K, Hosokawa M, Takeda T. Polymorphism of apolipoprotein A-II (apoA-II) among inbred strains of mice. Relationship between the molecular type of apoA-II and mouse senile amyloidosis. Biochem J. 1991;279:427–33.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Benson MD, Liepnieks JJ, Yazaki M, Yamashita T, Hamidi Asl K, Guenther B, et al. A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. Genomics. 2001;72:272–7.

    Article  CAS  PubMed  Google Scholar 

  9. Yazaki M, Liepnieks JJ, Barats MS, Cohen AH, Benson MD. Hereditary systemic amyloidosis associated with a new apolipoprotein AII stop codon mutation Stop78Arg. Kidney Int. 2003;64:11–6.

    Article  CAS  PubMed  Google Scholar 

  10. Yazaki M, Liepnieks JJ, Yamashita T, Guenther B, Skinner M, Benson MD. Renal amyloidosis caused by a novel stop-codon mutation in the apolipoprotein A-II gene. Kidney Int. 2001;60:1658–65.

    Article  CAS  PubMed  Google Scholar 

  11. Westermark P, Bergström J, Solomon A, Murphy C, Sletten K. Transthyretin-derived senile systemic amyloidosis: clinicopathologic and structural considerations. Amyloid. 2003;10(Suppl 1):48–54.

    CAS  PubMed  Google Scholar 

  12. Xing Y, Nakamura A, Chiba T, Kogishi K, Matsushita T, Li F, et al. Transmission of mouse senile amyloidosis. Lab Invest. 2001;81:493–9.

    Article  CAS  PubMed  Google Scholar 

  13. Korenaga T, Yan J, Sawashita J, Matsushita T, Naiki H, Hosokawa M, et al. Transmission of amyloidosis in offspring of mice with AApoAII amyloidosis. Am J Pathol. 2006;168:898–906.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Qian J, Yan J, Ge F, Zhang B, Fu X, Tomozawa H et al. Mouse senile amyloid fibrils deposited in skeletal muscle exhibit amyloidosis-enhancing activity. PLoS Pathog. 2010;6:e1000914.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgment

We thank Shizuka Fujii for technical assistance.

Conflict of interest

The authors have declared that no conflicts of interest exist.

Author information

Authors and Affiliations

  1. Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan

    Ryuji Morizane, Toshiaki Monkawa, Konosuke Konishi, Hirobumi Tokuyama, Koichi Hayashi & Hiroshi Itoh

  2. Department of Pathology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan

    Akinori Hashiguchi

  3. Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan

    Mitsuharu Ueda & Yukio Ando

  4. Apheresis and Dialysis Center, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan

    Matsuhiko Hayashi

Authors
  1. Ryuji Morizane
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Toshiaki Monkawa
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Konosuke Konishi
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Akinori Hashiguchi
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Mitsuharu Ueda
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Yukio Ando
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Hirobumi Tokuyama
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Koichi Hayashi
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Matsuhiko Hayashi
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Hiroshi Itoh
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ryuji Morizane.

About this article

Cite this article

Morizane, R., Monkawa, T., Konishi, K. et al. Renal amyloidosis caused by apolipoprotein A-II without a genetic mutation in the coding sequence. Clin Exp Nephrol 15, 774–779 (2011). https://doi.org/10.1007/s10157-011-0483-4

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10157-011-0483-4

Keywords

Search

Navigation