Enzyme replacement therapy in severe Fabry disease with renal failure: a 1-year follow-up.
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.
Tsambaos
Dionysios
D
Dermatology, University of Patras, Greece. TSAMBAOS@med.upatras.gr
Chroni
Elisabeth
E
Manolis
Antonis
A
Monastirli
Alexandra
A
Pasmatzi
Efi
E
Sakkis
Theophilos
T
Davlouros
Periklis
P
Goumenos
Dimitrios
D
Katrivanou
Aggeliki
A
Georgiou
Sophia
S
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*
D000519:alpha-Galactosidase