• Internal medicine · Feb 2023

    Case Reports

    Recurrent Cerebrovascular Complications under Enzyme Replacement Therapy in a Patient with Fabry Disease on Peritoneal Dialysis.

    • Reiko Muto, Yasuhiro Suzuki, Hideaki Shimizu, Kaoru Yasuda, Takuji Ishimoto, Shoichi Maruyama, Yasuhiko Ito, and Masashi Mizuno.
    • Department of Nephrology, Nagoya University Graduate School of Medicine, Japan.
    • Intern. Med. 2023 Feb 15; 62 (4): 565569565-569.

    AbstractFabry disease is an X-linked lysosomal storage disorder due to mutations in the alpha-galactosidase A gene, which leads to the accumulation of globotriaosylceramide in various organs. In Fabry disease with end-stage renal disease (ESRD), cerebrovascular events are lethal, even with enzyme replacement therapy (ERT). However, the utility of biomarkers to evaluate the ERT response is unclear. We herein report a case of recurrent cerebrovascular complications under ERT in a Fabry disease patient, progressing to ESRD on peritoneal dialysis. Further studies are warranted, but Fabry disease patients with ESRD receiving ERT might need careful long-term follow-up in cases with cerebrovascular manifestations.

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