Abstract
Fabry disease is a progressive devastating disease caused by absent or deficient activity of lysosomal enzyme alphagalactosidase A, with progressive accumulation of globotriaosylceramide (GL-3) within lysosomes in a different cell types. Accumulation of GL-3 and related glycosphingolipids in different cell types may create diverse clinical picture depending on the organ which is dominantly affected. Renal pathology progresses in severity with aging. Globotryaosil ceramide deposits may be found in different cell types within the kidney. Deposition within the glomeruli may be found in endothelial cells, mesangial cells, interstitial cells, with the highest level found within the podocytes.
Although Fabry disease is not curable at the moment, availability of enzyme replacement therapy made it possible to treat this group of patients. Two formulations of recombinant human alpha-galactosidase A are present on the market: agalsidase alfa and agalsidase beta. Longer follow-up period is necessary to estimate the impact of ERT on mortality.
Patients with end-stage renal disease caused by Fabry disease could be safely treated with enzyme replacement therapy regardless of the method of renal replacement therapy.
Keywords: Fabry disease, kidney, end-stage renal disease, dialysis, transplantation, enzyme replacement therapy.
Current Pharmaceutical Design
Title:Renal Complications of Fabry Disease
Volume: 19 Issue: 33
Author(s): Nikolina Basic-Jukic, Petar Kes, Marijana Coric and Vanja Basic-Kes
Affiliation:
Keywords: Fabry disease, kidney, end-stage renal disease, dialysis, transplantation, enzyme replacement therapy.
Abstract: Fabry disease is a progressive devastating disease caused by absent or deficient activity of lysosomal enzyme alphagalactosidase A, with progressive accumulation of globotriaosylceramide (GL-3) within lysosomes in a different cell types. Accumulation of GL-3 and related glycosphingolipids in different cell types may create diverse clinical picture depending on the organ which is dominantly affected. Renal pathology progresses in severity with aging. Globotryaosil ceramide deposits may be found in different cell types within the kidney. Deposition within the glomeruli may be found in endothelial cells, mesangial cells, interstitial cells, with the highest level found within the podocytes.
Although Fabry disease is not curable at the moment, availability of enzyme replacement therapy made it possible to treat this group of patients. Two formulations of recombinant human alpha-galactosidase A are present on the market: agalsidase alfa and agalsidase beta. Longer follow-up period is necessary to estimate the impact of ERT on mortality.
Patients with end-stage renal disease caused by Fabry disease could be safely treated with enzyme replacement therapy regardless of the method of renal replacement therapy.
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Cite this article as:
Basic-Jukic Nikolina, Kes Petar, Coric Marijana and Basic-Kes Vanja, Renal Complications of Fabry Disease, Current Pharmaceutical Design 2013; 19 (33) . https://dx.doi.org/10.2174/13816128113199990346
DOI https://dx.doi.org/10.2174/13816128113199990346 |
Print ISSN 1381-6128 |
Publisher Name Bentham Science Publisher |
Online ISSN 1873-4286 |
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