The renal lesion of angiokeratoma corporis diffusum (fabry's disease): report of three cases including some electron microscopic findings

Abstract

Abnormalities held to be characteristic of Fabry's disease (angiokeratoma corporis diffusum) were found in a renal biopsy, the urine, or a post-mortem kidney in three cases. A distinguishing feature of the disease was the presence of laminated glycolipid bodies in the glomerular epithelial cells: these bodies were thought to be shed into the urine by the disruption of the epithelial cells. These laminated bodies were well demonstrated after osmium tetroxide treatment of tissues or urine, but were not seen in formalin-fixed sections or in untreated urine. Abnormalities held to be characteristic of Fabry's disease (angiokeratoma corporis diffusum) were found in a renal biopsy, the urine, or a post-mortem kidney in three cases. A distinguishing feature of the disease was the presence of laminated glycolipid bodies in the glomerular epithelial cells: these bodies were thought to be shed into the urine by the disruption of the epithelial cells. These laminated bodies were well demonstrated after osmium tetroxide treatment of tissues or urine, but were not seen in formalin-fixed sections or in untreated urine.