Fabry disease: The many faces of a single disorder

Abstract

In summary, the articles presented in the current issue of CKJ focus our attention towards 'non-typical' forms of the disease. Patients with unusual clinical or genetic features contribute to unravelling the pathogenesis of FD nephropathy. Considering the different diagnosis approaches we have nowadays and, above all, the availability of ERT, it is important to raise the suspicion of FD when we face unexplained proteinuric CKD in either males or females. © 2012 The Author. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.