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Abstract: SA-PO360

A Case of Classical Fabry Disease due to De Novo GLA Genetic Mutation That Showed Characteristic Findings in Both Renal and Nerve Biopsy

Session Information

Category: Trainee Case Report

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic


  • Matsumura, Mimiko, Tokyo Teishin Hospital, Chiyoda-ku, TOKYO, Japan
  • Uni, Rie, University of Tokyo, Tokyo, Japan
  • Shimizu, Akira, Nippion Medical School, Tokyo, Japan
  • Takano, Hideki, Tokyo Teishin Hospital, Chiyoda-ku, TOKYO, Japan

Fabry’s disease (FD) is an X-linked lysosomal storage disorder due to mutations in the alfa-galactosidase A(GLA). Most cases are related to GLA inherited mutations, cases of de novo onset occur rarely.

Case Description

A 53-year-old man has been pointed out proteinuria for 20 years, but the reason had been unclear. When he was 50 years old, he suffered from sick sinus syndrome and has been fitted pacemaker. 3 years later, his serum creatinine got worse to 1.5 mg/dl and urine protein 1.5 g/gCr. Kidney biopsy was done and diagnosed as FD due to de-novo GLA mutation (R112C). Enzyme replacement therapy (ERT) using agalsidase-alfa was started and the concentration of Lyso-Gb3 went down for 2 months. But his left leg’s sensory neuropathy was obvious and nerve biopsy also showed peripheral neuropathy that could match to FD. Switching from agalsidase-alfa to agalsidase beta could lead to decrease the concentration of Lyso-Gb3.


In Japanese FD’s patient, genetic GLA de novo mutation is rare. After starting ERT, evaluation of organ damage is necessary, and if there were any problems, switching therapy may be suggested. There are few cases which both kidney and neuro biopsy were done. These findings emphasize the importance of early diagnosis, genetic analysis, and selecting appropriate enzyme replacement therapy to prevent irreversible organ damage that occurs during the course of the disease. In conclusion, early diagnosis, evaluating organ damage, and adequate ERT may be necessary for FD’s patient to decrease Lyso-Gb3 that would be associated with good prognosis.

Figure 1 Lyso-Gb3 concentration after starting ERT