Review
doi: 10.1016/j.jstrokecerebrovasdis.2020.105423.
Epub 2020 Nov 5.
Stroke and Chronic Kidney Disease in Fabry Disease
Affiliations
- PMID: 33160817
- DOI: 10.1016/j.jstrokecerebrovasdis.2020.105423
Item in Clipboard
Review
Stroke and Chronic Kidney Disease in Fabry Disease
J Stroke Cerebrovasc Dis.
2021 Sep.
Abstract
Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene leading to a deficiency of the enzyme alpha-galactosidase A (α-Gal A). Multiple organ systems are implicated in Fabry disease, most severely the cardiac, kidney, and central nervous systems. In this brief review, we will focus on the kidney and central nervous system involvement.
Keywords: Chronic kidney disease; Chronic white matter hyperintensities; Fabry disease; Stroke.
Copyright © 2020 Elsevier Inc. All rights reserved.
Similar articles
-
[Diagnosis of Fabry disease: usefulness of the clinical investigation].Rev Med Interne. 2010 Dec;31 Suppl 2:S229-32. doi: 10.1016/S0248-8663(10)70018-7. Rev Med Interne. 2010. PMID: 21211670 French.
-
Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage.J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S369-74. doi: 10.1007/s10545-008-0930-x. Epub 2008 Oct 21. J Inherit Metab Dis. 2008. PMID: 18937048
-
Paradoxical Response to Enzyme Replacement Therapy of Fabry Disease Cardiomyopathy.Circ Cardiovasc Imaging. 2016 Aug;9(8):e005078. doi: 10.1161/CIRCIMAGING.116.005078. Circ Cardiovasc Imaging. 2016. PMID: 27486136 No abstract available.
-
The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease.Expert Opin Biol Ther. 2009 May;9(5):631-9. doi: 10.1517/14712590902902296. Expert Opin Biol Ther. 2009. PMID: 19368525 Review.
-
Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?BMC Nephrol. 2014 May 6;15:72. doi: 10.1186/1471-2369-15-72. BMC Nephrol. 2014. PMID: 24886109 Free PMC article. Review.
Cited by
-
The Future of Ischemic Stroke Diagnosis and a Review of Underrecognized Ischemic Stroke Etiologies.Neurotherapeutics. 2023 Apr;20(3):613-623. doi: 10.1007/s13311-023-01383-3. Epub 2023 May 8. Neurotherapeutics. 2023. PMID: 37157043 Free PMC article. Review.
-
Serum neurofilament light chain is not a useful biomarker of central nervous system involvement in women with Fabry disease.Intractable Rare Dis Res. 2021 Nov;10(4):276-282. doi: 10.5582/irdr.2021.01115. Intractable Rare Dis Res. 2021. PMID: 34877240 Free PMC article.
-
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype.Mol Genet Metab Rep. 2022 Feb 17;31:100851. doi: 10.1016/j.ymgmr.2022.100851. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35242583 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
