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 a-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. Key words: a-galactosidase A; angiokeratoma; dialysis; diarrhoea; depression; globotriaosylceramides; oedema.