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

Reiko Muto1,2, Yasuhiro Suzuki1,3, Hideaki Shimizu4

  • 1Department of Nephrology, Nagoya University Graduate School of Medicine, Japan.

Internal Medicine (Tokyo, Japan)
|July 13, 2022
PubMed

Insights

Fabry disease patients with kidney failure on enzyme replacement therapy (ERT) may still experience severe cerebrovascular events. Careful monitoring is crucial for these high-risk Fabry disease patients.

Area of Science:

  • Biochemistry and Genetics
  • Nephrology
  • Neurology

Background:

  • Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency.
  • Accumulation of globotriaosylceramide occurs in various organs, leading to severe complications.
  • Enzyme replacement therapy (ERT) is a treatment option, but its effectiveness in specific patient groups is under investigation.

Observation:

  • A case report of a Fabry disease patient with end-stage renal disease (ESRD) experiencing recurrent cerebrovascular events.
  • The patient was undergoing enzyme replacement therapy (ERT) and peritoneal dialysis.
  • Cerebrovascular complications persisted despite ERT, highlighting potential limitations in treatment efficacy.

Findings:

  • The study highlights the risk of lethal cerebrovascular events in Fabry disease patients with ESRD, even with ERT.
  • The utility of biomarkers for assessing ERT response in this population remains unclear.
  • Recurrent cerebrovascular complications were observed in the reported case despite ongoing ERT.

Implications:

  • Fabry disease patients with ESRD receiving ERT may require intensified long-term monitoring for cerebrovascular manifestations.
  • Further research is needed to understand ERT efficacy and identify optimal biomarkers in advanced Fabry disease.
  • This case underscores the complex management challenges in Fabry disease patients with multi-organ involvement.

Keywords:
Fabry diseaseend-stage renal diseaseenzyme replacement therapyperitoneal dialysisrenal replacement therapy

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