title: Renal complications of Fabry disease.
abstract: Fabry disease is a progressive devastating disease caused by absent or deficient activity of lysosomal enzyme alpha-galactosidase 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.
authors: Department of nephrology, arterial hypertension, dialysis and transplantation, University Hospital Centre Zagreb Kispaticeva 12 10000 Zagreb, Croatia. nina_basic@net.hr.
authors: Nikolina
authors: N
authors: Basic-Jukic
authors: Petar
authors: P
authors: Kes
authors: Marijana
authors: M
authors: Coric
authors: Vanja
authors: V
authors: Basic-Kes
mesh_terms: D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000008:administration & dosage / Q000378:metabolism / Q000627:therapeutic use; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D008297:Male; D011994:Recombinant Proteins; D012727:Sex Characteristics; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000008:administration & dosage / Q000378:metabolism / Q000627:therapeutic use
chemical_list: D007527:Isoenzymes; D011994:Recombinant Proteins; C000627036:agalsidase alfa; D000519:alpha-Galactosidase; C459420:agalsidase beta