A case of female Fabry disease revealed by renal biopsy

  • Sae ArataniEmail author
  • Hiroyuki Yamakawa
  • Shinya Suzuki
  • Tomoyuki Otsuka
  • Yukinao Sakai
  • Akira Shimizu
  • Shuichi Tsuruoka
Case Report


Fabry disease (FD) is an X-linked inherited glycosphingolipid metabolism disorder, therefore, heterozygous female FD patients display highly variable clinical symptoms, disease severity, and pathological findings. This makes it very challenging to diagnosing female patients with FD. A 69-year-old Japanese female was introduced to the nephrologist for the evaluation of proteinuria. A renal biopsy was performed. Although the light microscopic examinations revealed that most of the glomeruli showed minor glomerular abnormalities, however, vacuolation was apparently found in the tubular epithelial cells. Immunofluorescence staining for globotriaosylceramide was positively detected in some podocytes and distal tubular epithelial cells. In addition, myelin-like structure (zebra body) was detected by electron microscopy. Pathological findings were most consistent with FD. Consequently, biochemical and genetic analysis confirmed the diagnosis of female FD. Enzyme replacement therapy was performed in conjunction with renin–angiotensin aldosterone system inhibitors and beta-blockers. The patient’s family members received the analysis, and the same DNA missense mutation was detected in the patient’s grandson. The enzyme replacement therapy was introduced to the grandson. The present case showed that renal biopsy can contribute towards a correct diagnosis for FD. Particularly, in female FD patients, careful examination of pathological changes is essential, for example, vacuolation of any type of renal cells may be a clue for the diagnosis.


Fabry disease Renal biopsy Pathology Vacuolation Enzyme replacement therapy 



We are grateful to Honorary Prof. Nobuaki Yamanaka, Mr. Takashi Arai, Ms. Ms. Mitsue Kataoka, Ms. Kyoko Wakamatsu, Ms. Arimi Ishikawa, and Ms. Naomi Kuwahara for their expert assistance.


The authors have no funding sources to declare.

Compliance with ethical standards

Conflict of interest

The authors have no competing interests to declare.

Ethical approval

All the procedures performed in this study were in accordance with the ethical standards of the institutional and national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. This case study complied with the Helsinki Declaration standards and was approved by the Ethical Committee of Nippon Medical School Hospital.

Informed consent

Informed consent was obtained from the patient included in the study.


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Copyright information

© Japanese Society of Nephrology 2019

Authors and Affiliations

  1. 1.Department of Nephrology, Graduate School of MedicineNippon Medical SchoolTokyoJapan
  2. 2.Department of CardiologyKeio University School of MedicineTokyoJapan
  3. 3.Department of NephrologyNippon Medical School Musashikosugi HospitalKawasakiJapan
  4. 4.Department of CardiologyThe Cardiovascular InstituteTokyoJapan
  5. 5.Department of Analytic Human Pathology, Graduate School of Medicine, Nippon Medical SchoolTokyoJapan

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