Renal biopsy in Anderson-Fabry nephropathy

Abstract

There are two major fields in which renal biopsy in Anderson-Fabry (AF) disease may play a role. The first is investigation, when we are involved in a trial to investigate particular aspects of AF nephropathy or the effect of therapy. In this case, the reason and the time to perform a renal biopsy are planned by the scientific board. The second is when we are looking after a patient with AF with renal involvement. In this case, in the typically affected male, biopsy can be useful but is not mandatory. Instead, in an asymptomatic female with only mild proteinuria, or a male adult over 40 years of age with normal renal function, it is important to perform a renal biopsy. Indeed, it will possible to demonstrate organ involvement of AF disease, and so it will be correct to start enzyme replacement therapy. Moreover, sometimes a patient may have a clinical picture not immediately ascribable to AF disease (macrohematuria, nephrotic proteinuria, etc.); in these cases histological examination may reveal a double pathology (IgA nephropathy, diabetic changes, etc.) associated with typical changes of Fabry nephropathy. (aiaf)