CEN Case Reports

, Volume 6, Issue 2, pp 210–214 | Cite as

Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy

  • Yoichi IwafuchiEmail author
  • Hiroki Maruyama
  • Tetsuo Morioka
  • Seiko Noda
  • Hiroshi Nagata
  • Yuko Oyama
  • Ichiei Narita
Case Report


Fabry disease is a rare X-linked lysosomal storage disorder of glycosphingolipid catabolism caused by deficient activity of the lysosomal hydrolase alpha-galactosidase A (ɑ-Gal A). A 20-year-old woman was referred to our hospital because of proteinuria and persistent macroscopic hematuria. Based on the typical renal pathological findings, deficient activity of the ɑ-Gal A, and heterozygous mutation in the ɑ-Gal A gene, she was diagnosed with Fabry disease. After 1 year of enzyme replacement therapy with agalsidase alfa at 0.2 mg/kg every other week, the patient’s proteinuria and hematuria were disappeared. In our patient, enzyme replacement therapy with agalsidase alfa was observed to be safe and well-tolerated during her pregnancy, with no significant negative effects on her or her child. Here, we report clinical and pathological evaluations of a patient through repeat kidney biopsy after 6 years of enzyme replacement therapy. Furthermore, we discussed the appropriate enzyme replacement therapy and its safety in pregnant women with Fabry disease.


Heterozygous Fabry disease Enzyme replacement therapy Agalsidase alfa Agalsidase beta Kidney biopsy Pregnancy 



The authors are grateful to Mr. N. Sakamoto, Ms. S. Tsuchida, Ms. M. Yoshinuma, and Ms. M. Igashima (Department of Pathology, Shinrakuen Hospital) for their technical assistance.

Compliance with ethical standards

Conflict of interest

H. M. has received speaker fees, research support from Sanofi. I. N. has received donations for research from Sanofi and Sumitomo Dainippon Pharm.

Human and animal rights statement

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

Informed consent

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


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Copyright information

© Japanese Society of Nephrology 2017

Authors and Affiliations

  1. 1.Department of Internal MedicineKoseiren Sanjo General HospitalSanjoJapan
  2. 2.Department of Clinical NephroscienceNiigata University Graduate School of Medical and Dental SciencesNiigataJapan
  3. 3.Department of Internal Medicine, Kidney CenterShinrakuen HospitalNiigataJapan
  4. 4.Department of Obstetrics and GynecologyKoseiren Sanjo General HospitalSanjoJapan
  5. 5.Division of Clinical Nephrology and RheumatologyNiigata University Graduate School of Medical and Dental SciencesNiigataJapan

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