Histopathological findings in renal biopsies in Anderson–Fabry disease. Case series

Abstract

Anderson–Fabry disease is the second most common lysosomal storage disease after Gaucher disease. It is an X-linked lysosomal disorder that causes a deficiency in alpha-galactosidase, leading to the accumulation of globotriaosylceramide (Gb3) in the lysosomes of different cells, producing renal, cardiac and neurological deficits that can lead to an early death. The renal histologic analysis, applied using a standardised rating system, is useful for initiating enzyme replacement therapy and for assessing the prognosis. In this article we classify the histologic lesions found in light and electron microscopy in renal biopsies of patients with Anderson–Fabry disease, using the scoring system for renal pathology in Fabry disease: Report of the International Study Group of Fabry Nephropathy (ISGFN). More than half of the cases did not present any change in the clinical and laboratory assessment at the time of the biopsy; nevertheless there were changes in the light and electronic microscopy findings. The information from the renal biopsy is an early indicator of renal damage, even without proteinuria and with preserved renal function.