title: Enzyme replacement therapy in severe Fabry disease with renal failure: a 1-year follow-up.
abstract: We present here the course of clinical response of a 53-year-old haemodialysed Fabry patient who received recombinant human alpha-galactosidase A at a dose of 1 mg/kg every other week over a period of 1 year. The therapy was well tolerated by the patient, who revealed an impressive favourable cutaneous, gastrointestinal, neurological and psychiatric response and a dramatic improvement in his quality of life, but no improvement in cardiac and renal function.
authors.affiliation: Dermatology, University of Patras, Greece. TSAMBAOS@med.upatras.gr
authors.forename: Dionysios
authors.initials: D
authors.lastname: Tsambaos
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Chroni
authors.forename: Antonis
authors.initials: A
authors.lastname: Manolis
authors.forename: Alexandra
authors.initials: A
authors.lastname: Monastirli
authors.forename: Efi
authors.initials: E
authors.lastname: Pasmatzi
authors.forename: Theophilos
authors.initials: T
authors.lastname: Sakkis
authors.forename: Periklis
authors.initials: P
authors.lastname: Davlouros
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Goumenos
authors.forename: Aggeliki
authors.initials: A
authors.lastname: Katrivanou
authors.forename: Sophia
authors.initials: S
authors.lastname: Georgiou
mesh_terms: D057487:Enzyme Therapy; D000795:Fabry Disease / Q000150:complications / Q000188:drug therapy*; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D006435:Renal Dialysis; D051437:Renal Insufficiency / Q000209:etiology* / Q000628:therapy; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000627:therapeutic use*
chemical_list: D000519:alpha-Galactosidase