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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Enzyme replacement therapy in severe Fabry disease with renal failure: a 1-year follow-up
Dionysios Tsambaos1, Elisabeth Chroni, Antonis Manolis
1Dermatology, University of Patras, Greece. TSAMBAOS@med.upatras.gr
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.
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.
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