Details

Autor(en) / Beteiligte

• Muto, Reiko
• Suzuki, Yasuhiro
• Shimizu, Hideaki
• Yasuda, Kaoru
• Ishimoto, Takuji
• Maruyama, Shoichi
• Ito, Yasuhiko
• Mizuno, Masashi

Titel

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

Ist Teil von

• Internal Medicine, 2023/02/15, Vol.62(4), pp.565-569

Ort / Verlag

Japan: The Japanese Society of Internal Medicine

Erscheinungsjahr

2023

Link zum Volltext

Quelle

Electronic Journals Library - Freely accessible e-journals

Beschreibungen/Notizen

• Fabry 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.