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CEN Case Reports

, Volume 6, Issue 2, pp 148–151 | Cite as

Urinary mulberry cells and mulberry bodies are useful tool to detect late-onset Fabry disease

  • Homare ShimohataEmail author
  • Hiroshi Maruyama
  • Yasunori Miyamoto
  • Mamiko Takayasu
  • Kouichi Hirayama
  • Masaki Kobayashi
Case report

Abstract

Fabry disease is an X-linked lysosomal storage disorder caused by a lack of α-galactosidase A activity, which leads to the accumulation of globotriaosylceramide in various organs. A complete lack of α-galactosidase A activity in a hemizygous male is the classical phenotype, and some hemizygous males show primarily cardiac and/or renal symptoms that appear in adulthood; this is called the variant type or the late-onset type. The kidney and heart are the major target organs, with damage to these organs related to mortality. Thus, in Fabry patients, early detection and early treatment are critical to longevity. Here, we present a 55-year-old Japanese male patient who was diagnosed with late-onset Fabry nephropathy with cardiomyopathy but with no abnormal urinary findings except for urinary mulberry cells and mulberry bodies. In spite of the absence of abnormal urinary findings, the light microscopic and electron microscopic pathological findings showed extensive deposition of globotriaosylceramide to podocytes. In this paper, we propose that the presence of mulberry cells and mulberry bodies can be used for the earlier detection of Fabry nephropathy, especially the late-onset type.

Keywords

Fabry nephropathy Late-onset Mulberry bodies Mulberry cells 

Notes

Compliance with ethical standards

Conflict of interest

The authors have declared that no conflict of interest exists.

Human and animal rights

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

Informed consent

Informed consent was obtained from all individual participants included in the study.

References

  1. 1.
    Kint JA. Fabry’s disease: alpha-galactosidase deficiency. Science. 1970;167:1268–9.CrossRefGoogle Scholar
  2. 2.
    Tondel C, Bostad L, Larsen KK, et al. Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol. 2013;24:137–8.CrossRefGoogle Scholar
  3. 3.
    Pisani A, Visciano B, Imbriaco M, et al. The kidney in Fabry’s disease. Clin Genet. 2014;86:301–9.CrossRefGoogle Scholar
  4. 4.
    Terryn W, Cochat P, Froissart R, et al. Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice. Nephrol Dial Transplant. 2013;28:505–17.CrossRefGoogle Scholar
  5. 5.
    Ortiz A, Oliveira JP, Wanner C, Brenner BM, Waldek S, Warnock DG. Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults. Nat Clin Pract Nephrol. 2008;4:327–36.CrossRefGoogle Scholar
  6. 6.
    Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med. 1995;333:288–93.CrossRefGoogle Scholar
  7. 7.
    Nakao S, Kodama C, Takenaka T, et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype. Kidney Int. 2003;64:801–7.CrossRefGoogle Scholar
  8. 8.
    Tondel C, Kanai T, Larsen KK, et al. Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria. Nephron. 2015;129:16–21.CrossRefGoogle Scholar
  9. 9.
    Eng CE, Fletcher J, Wilcox WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis. 2007;30:182.CrossRefGoogle Scholar
  10. 10.
    Trimarchi H, Canzonieri R, Muryan A, et al. Copious podocyturia without proteinuria and with normal renal function in a young adult with Fabry disease. Case Rep Nephrol. 2015;257628.Google Scholar
  11. 11.
    Becher GJ, Nicholls K. Lipiduria-with special relevance to Fabry disease. Clin Chem Lab Med. 2015;53:s1465–70.Google Scholar
  12. 12.
    Nakamichi T, Miyazaki M, Nakayama K, et al. Fabry’s disease discovered with chance urinary mulberry cells: a case report. CEN Case Rep. 2013;2:49–52.CrossRefGoogle Scholar
  13. 13.
    Honda T, Komatsu E, Furuse S, Mise N. Fabry disease diagnosed based on the detection of urinary mulberry bodies. Int Med. 2016;55:2903.CrossRefGoogle Scholar
  14. 14.
    Shimohata H, Ogawa Y, Maruyama H, Hirayama K, Kobayashi M. A case of renal variant of Fabry disease diagnosed by the presence of urinary mulberry cells. Int Med. 2016;55:3475–8.CrossRefGoogle Scholar
  15. 15.
    Najafian B, Svarstad E, Bostad L, et al. Progressive podocyte injury and globotriaosylceramide (Gb-3) accumulation in young patients with Fabry disease. Kidney Int. 2010;79:663–70.CrossRefGoogle Scholar
  16. 16.
    Tondel C, Bostad L, Hirth A, Svarstad E. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis. 2008;51:767–76.CrossRefGoogle Scholar

Copyright information

© Japanese Society of Nephrology 2017

Authors and Affiliations

  1. 1.Department of NephrologyTokyo Medical University Ibaraki Medical CenterInashikiJapan

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