[Intravenous enzyme substitution therapy in children with Fabry's disease].

BACKGROUND: Fabry's disease is a X-linked lysosomal storage disorder with accumulation of globotriaosylceramide primarily in vascular endothelial cells, affecting mainly skin, kidney, heart and brain. Symptoms may appear in 7-8-year-old children as burning pain in hands and feet; organ damage usually becomes evident in adult age. Intravenous enzyme replacement therapy has recently become available. PATIENTS: Two brothers, 13.5 and 15 years old, had typical symptoms with acroparesthesia, fever, abdominal pain and diarrhoea. There were high levels of urinary globotriaosylceramide, low levels of alfagalactosidase A in leukocytes, and a single-nucleotide deletion in position 10671 of the alfagalactosidase gene (GLA). Both brothers showed slightly abnormal echocardiography and one had typical changes on cerebral MRI. Enzyme replacement therapy with alfagalactosidase A (Replagal) was started in November 2001. After one year of therapy there was clearly clinical improvement with no fever and diarrhoea and less pain. The urinary excretion of globotriaosylceramide was reduced. No adverse effects were recorded.
INTERPRETATION: During 12 months of intravenous enzyme replacement therapy in two adolescent subjects with Fabry's disease we observed clinical improvement and no adverse effects. We recommend greater awareness of Fabry's disease in paediatrics as well as in adult medicine.