[Clinical and histological findings in Fabry nephropathy].

[fabry disease]

Fabry disease is a complex pathology , requiring a multidisciplinar approach both in the diagnostic workout and in the management of therapy . Clinical criteria able to predict its morbidity have not yet been found . The wide variability of clinical signs and symptoms requires an individual approach based on the single patient , in order to achieve an optimal management . Enzyme replacement therapy (ERT ) has been introduced in the clinical setting for over ten years , but its ability to change the course of the disease has not yet been clearly proved . Recently the hypothesis that ERT may be ineffective in patients with severe organ involvement has emerged . The clinical course of Fabry disease is usually slower in eterozygous women than emizygous men , but can be frequently associated to severe organ failure and premature death in both cases . In this review we discuss the histological aspects of Fabry nephropathy in relation to diagnosis , prognosis , therapy and its effectiveness .