Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Feb 15;62(4):565-569.
doi: 10.2169/internalmedicine.0185-22. Epub 2022 Jul 14.

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

Reiko Muto  1   2 , Yasuhiro Suzuki  1   3 , Hideaki Shimizu  4 , Kaoru Yasuda  5 , Takuji Ishimoto  1   6 , Shoichi Maruyama  1 , Yasuhiko Ito  6 , Masashi Mizuno  1   3
Affiliations
Case Reports

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

Reiko Muto et al. Intern Med. .

Abstract

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.

Keywords: Fabry disease; end-stage renal disease; enzyme replacement therapy; peritoneal dialysis; renal replacement therapy.

PubMed Disclaimer

Conflict of interest statement

The authors state that they have no Conflict of Interest (COI).

Figures

Figure 1.
Figure 1.
Magnetic resonance imaging (MRI) and computed tomography (CT) findings at the onset of cerebrovascular events: a: MRI reveals a hyperintense lesion in the left cerebral white matter. b: CT shows a hyperintense lesion in the left putamen. c: CT also shows a hyperintense lesion in the right thalamus.
Figure 2.
Figure 2.
Results of echocardiography. a: Echocardiography findings at 45 years old. b: Echocardiography findings at 50 years old. IVST: interventricular septum thickness, PWT: posterior left ventricular wall thickness, LVDd: left ventricular end-diastolic dimension, LVDs: left ventricular internal dimension in systole, LAD: left atrial dimension, E/e’: mitral flow velocity during early diastole/early diastolic wall motion velocity of the mitral valve annulus, EF: ejection fraction, BNP: brain natriuretic peptide
Figure 3.
Figure 3.
The measuring points of the basilar artery diameter in T2 weighted images of MRI. a: The rostral point. b: The intermediate point. c: The caudal point.
Figure 4.
Figure 4.
Clinical course: Age versus the concentration of globotriaosylceramide (GL-3; in μg/mL).
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

  • An Overview of Molecular Mechanisms in Fabry Disease.
    Amodio F, Caiazza M, Monda E, Rubino M, Capodicasa L, Chiosi F, Simonelli V, Dongiglio F, Fimiani F, Pepe N, Chimenti C, Calabrò P, Limongelli G. Amodio F, et al. Biomolecules. 2022 Oct 12;12(10):1460. doi: 10.3390/biom12101460. Biomolecules. 2022. PMID: 36291669 Free PMC article. Review.

References

    1. Robert JH, Bissler J, Banikazemi M, et al. . Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 5: 550-555, 2008. - PubMed
    1. Sawada J, Nakagawa N, Kano K, et al. . Characteristics of neurological symptoms in adult Japanese patients with Fabry disease. Intern Med 60: 1819-1826, 2021. - PMC - PubMed
    1. Mignani R, Feriozzi S, Schaefer RM, et al. . Dialysis and transplantation in Fabry disease: indications for enzyme replacement therapy. Clin J Am Soc Nephrol 5: 379-385, 2010. - PubMed
    1. Sakuraba H, Togawa T, Takahiro T, Kato H. Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy. Clin Exp Nephrol 22: 843-849, 2018. - PubMed
    1. Arends M, Wijburg FA, Wanner C, et al. . Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease. Mol Genet Metab 121: 157-161, 2017. - PubMed

Publication types

MeSH terms

Substances