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Fibrosis: a key feature of Fabry disease with potential therapeutic implications

Please always quote using this URN: urn:nbn:de:bvb:20-opus-124773
  • Fabry disease is a rare X-linked hereditary disease caused by mutations in the AGAL gene encoding the lysosomal enzyme alpha-galactosidase A. Enzyme replacement therapy (ERT) is the current cornerstone of Fabry disease management. Involvement of kidney, heart and the central nervous system shortens life span, and fibrosis of these organs is a hallmark of the disease. Fibrosis was initially thought to result from tissue ischemia secondary to endothelial accumulation of glycosphingolipids in the microvasculature. However, despite ready clearanceFabry disease is a rare X-linked hereditary disease caused by mutations in the AGAL gene encoding the lysosomal enzyme alpha-galactosidase A. Enzyme replacement therapy (ERT) is the current cornerstone of Fabry disease management. Involvement of kidney, heart and the central nervous system shortens life span, and fibrosis of these organs is a hallmark of the disease. Fibrosis was initially thought to result from tissue ischemia secondary to endothelial accumulation of glycosphingolipids in the microvasculature. However, despite ready clearance of endothelial deposits, ERT is less effective in patients who have already developed fibrosis. Several potential explanations of this clinical observation may impact on the future management of Fabry disease. Alternative molecular pathways linking glycosphingolipids and fibrosis may be operative; tissue injury may recruit secondary molecular mediators of fibrosis that are unresponsive to ERT, or fibrosis may represent irreversible tissue injury that limits the therapeutic response to ERT. We provide an overview of Fabry disease, with a focus on the assessment of fibrosis, the clinical consequences of fibrosis, and recent advances in understanding the cellular and molecular mechanisms of fibrosis that may suggest novel therapeutic approaches to Fabry disease.show moreshow less

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Metadaten
Author: Frank Weidemann, Maria D. Sanchez-Nino, Juan Politei, João-Paulo Oliveira, Christoph Wanner, David G. Warnock, Alberto Oritz
URN:urn:nbn:de:bvb:20-opus-124773
Document Type:Journal article
Faculties:Medizinische Fakultät / Medizinische Klinik und Poliklinik I
Language:English
Parent Title (English):Orphanet Journal of Rare Diseases
ISSN:1750-1172
Year of Completion:2013
Volume:8
Issue:116
Source:Orphanet Journal of Rare Diseases 2013, 8:116. doi:10.1186/1750-1172-8-116
DOI:https://doi.org/10.1186/1750-1172-8-116
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 616 Krankheiten
Tag:Fabry; Lyso-Gb3; agalsidase-beta; alpha-galactosidase-A; biopsy findings; cardiac energy metabolism; cardiovascular magnetic-resonance; enzyme replacement therapy; fibrosis; focal semental glomerulosclerosis; kidney; left-ventricular hypertrophy; natural-history data; podocyte; randomized controlled trial
Release Date:2016/03/02
Licence (German):License LogoCC BY: Creative-Commons-Lizenz: Namensnennung