Clinical and diagnostic considerations in Fabry's disease

Abstract

Three patients with Fabry's disease with a similar clinical picture, including recurrent burning sensations in the extremities, hypohidrosis and slowly progressive renal insufficiency, have been investigated metabolically at different stages of renal impairment. One patient died after three unsuccessful renal transplantations in a 4-year period of intermittent haemodialysis with disabling pains. One successfully transplanted patient is still alive and well, 12 years after the start of therapy. Thermolabile alpha-galactosidase has been demonstrated in his urine. The third patient has slowly progressive renal impairment. No therapeutic enzyme replacement available today is ideal. Early diagnosis is therefore necessary to increase the possibilities of prenatal diagnosis and genetic counseling.