title: [Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature].
abstract: Anderson-Fabry disease is a hereditary X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha galactosidase A. It results in the accumulation of the glycosphingolypid globotrioasoyl ceramide (Gb3 in different cells and organs, resulting in a multi-system pathology including end organ failure. Patients with Fabry disease present clinically with cardiac, renal and neurological involvement; both life expectancy and quality of life are severely compromised. The current causal treatment for Fabry disease is enzyme replacement therapy (ERT), available since 2001. The two recombinant preparations available for ERT are agalsidase alfa (Replagal) and agalsidase beta (Fabrazyme). They have both been showed to have positive effect on kidney and heart, on the symptoms of pain and quality of life. Few data to date are available on comparison of the two preparations of ERT. This article reviews evidence of the literature and shows our personal experience about the safety and efficacy of ERT.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Riccio
authors.forename: Ivana
authors.initials: I
authors.lastname: Capuano
authors.forename: Bianca
authors.initials: B
authors.lastname: Visciano
authors.forename: Cristina
authors.initials: C
authors.lastname: Marchetiello
authors.forename: Fortunato
authors.initials: F
authors.lastname: Petrillo
authors.forename: Antonio
authors.initials: A
authors.lastname: Pisani
mesh_terms: D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000175:diagnosis / Q000188:drug therapy*; D006801:Humans; D016030:Kidney Transplantation; D006435:Renal Dialysis; D000519:alpha-Galactosidase / Q000627:therapeutic use*
chemical_list: D000519:alpha-Galactosidase