| Popis: |
Objective: To describe two cases of Fabry disease (FD) from the same family nucleus associated with Membranous Nephropathy (MN) and Systemic Lupus Erythematosus (SLE). Case report: We present an index case of a 61-year-old man with nephrotic syndrome and FD (c.1046G>C p.W349S) and his daughter with systemic lupus erythematosus. Appropriate diagnosis based on renal biopsy allowed to conclude that it was, in fact, a primary membranous glomerulopathy caused by the formation of autoantibody against phospholipase A2 receptor and a class V nephritis, respectively, in the index case and his daughter, associated to glycosphingolipid inclusions in renal cells with areas of podocyte effacement. Final considerations: Although FD diagnosis be performed by biochemical and molecular tests, a detailed analysis of the kidney biopsy is essential to diagnose the coexistence of FD and autoimmune diseases, thus allowing a more adequate treatment. |
