6533b7d9fe1ef96bd126b90e

RESEARCH PRODUCT

Fabry nephropathy: 5 years of enzyme replacement therapy-a short review.

subject

description

Fabry disease is an X-linked lysosomal storage disease, resulting from a deficiency of the enzyme α-galactosidase A and subsequent cellular storage of the enzyme substrate globotriaosylceramide (Gb3) [1]. Estimates of the incidence of Fabry disease vary markedly, from 1:<5000 male births in a newborn screening study in Italy [2] to 1:117 000 male births in Australia [3] and 1:833 000 male births in northern Portugal [4]. In general, hemizygous males are more severely affected than heterozygous females. In males, life expectancy is reduced by an average of 20 years [5] and in females by 15 years [6]. Although males tend to suffer symptoms earlier than females, both boys and girls can be affected from an early age [7]. Death usually occurs due to renal, cardiovascular or cerebrovascular complications [5,6,8], with renal dysfunction being the main cause of death in men before the development of renal failure requiring dialysis and transplantation [9]. As enzyme replacement therapy (ERT) has recently become available, it is important to recognize the signs and symptoms of Fabry disease so that early treatment can be started before irreversible organ damage occurs. This short review outlines the renal manifestations of Fabry disease and the results of ERT.