Fabry disease: kidney involvement and enzyme replacement therapy.

CASE PRESENTATIONS Patient 1. A 50-year-old man with end-stage renal disease (ESRD) possibly secondary to Fabry disease commenced chronic ambulatory peritoneal dialysis (CAPD) 19 months ago. In childhood he presented with acroparesthesias and pain crises with fever, which were considered to be of psychosomatic origin. Remission of the symptoms occurred when he was 15 years old, but he continued to have atypical abdominal pain and a low threshold for pain. In childhood he also developed angiokeratomas. From the age of 29, he suffered from asthma and since then has been treated with anti-asthmatic inhalers. Fifteen years ago he underwent a slit-lamp examination, in which the typical ophthalmic findings of Fabry disease (cornea verticilata, lenticular opacities) were observed and the diagnosis of the disease was established. Eleven years ago, hypertrophic cardiomyopathy with arrhythmias was treated with anti-arrhythmic agents, including amiodarone. Renal insufficiency was detected