Podocytes and Fabry’s Disease

摘要

On the occasion of a case of a male patient 26 years old, with non-nephrotic proteinuria, without clinical or paraclinical signs of systemic disease, diagnosed of Fabry’s Disease by means of a renal biopsy and determination of the genetic mutation by molecular biology techniques. We review the role of podocytes, their importance in the formation of the slit diaphragm and epithelial mesenchymal transition; and emphasized the role of podocyte involvement in the pathophysiology of proteinuria and their relationship with FD . The information used in this review shows the importance of the podocyte cell, which has an epithelial phenotype, and present susceptibility to enzyme therapy, this might open new ways leading to a better understanding of the pathophysiology of Fabry’s Disease.