Fabry Nephropathy in a Young Female Patient Presenting with only Urinary Mulberry Bodies Treated with Chaperone Therapy

Tsugumi Fukunaga, Shingo Nakayama, Takuo Hirose, Kishin Muramatsu, Akari Endo, Yuka Miyake, Go Anan, Ikuko Oba-Yabana, Atsuhiro Kanno, Hannah Nakamura, Junichi Tani, Kimitoshi Nakamura, Kazuhiro Sumitomo, Wako Yumura, Katsutoshi Furukawa, Takefumi Mori

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


Fabry disease (FD) is an X-linked disorder of the sphingolipid metabolism, caused by deficiency or decreased activity of α-galactosidase A. We report a rare case of Fabry nephropathy (FN) in a 21-year-old Japanese female patient presenting with only urinary mulberry bodies; she was treated with pharmacological chaperone therapy (PCT) after renal biopsy. The patient underwent a detailed examination because her mother was diagnosed with FD in the Division of Community Medicine of our hospital. She did not have renal dysfunction or proteinuria, and only mulberry bodies were detected in the urine. The activity of α-galactosidase A was low, and genetic analysis revealed the R301Q mutation. A percutaneous renal biopsy was performed, and the findings revealed enlargement and vacuolation of glomerular podocytes by light microscopy, and myelin and zebra bodies were detected in podocytes by electron microscopy. She was diagnosed with FN by renal biopsy and gene analysis. PCT was selected as the treatment to prevent cardiac events and renal dysfunction. The present case suggests that renal biopsy may be necessary even for young women with only mulberry bodies for the diagnosis of FN. It could be useful to evaluate the effect of treatment using the counts of mulberry bodies in the urine. In addition, due to its oral administration, PCT may be suitable for patients who are unable to visit the hospital frequently.

Original languageEnglish
Pages (from-to)355-361
Number of pages7
JournalCase Reports in Nephrology and Dialysis
Issue number3
Publication statusPublished - 2021 Nov 29
Externally publishedYes


  • Chaperone therapy
  • Enzyme replacement therapy
  • Fabry disease
  • Mulberry bodies

ASJC Scopus subject areas

  • Nephrology


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