Generic placeholder image

Current Pharmaceutical Design


ISSN (Print): 1381-6128
ISSN (Online): 1873-4286

Renal Complications of Fabry Disease

Author(s): Nikolina Basic-Jukic, Petar Kes, Marijana Coric and Vanja Basic-Kes

Volume 19 , Issue 33 , 2013

Page: [6046 - 6050] Pages: 5

DOI: 10.2174/13816128113199990346

Price: $65


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.

Rights & Permissions Print Export Cite as
© 2022 Bentham Science Publishers | Privacy Policy