Silicon nephropathy mimicking Fabry's disease.
Percutaneous renal biopsy was performed in a surface coal miner with radiographic and histopathologic pulmonary changes consistent with acute silicolipoproteinosis who developed proteinuria and hematuria. Electron microscopic evaluation of the renal tissue specimen revealed a diffusely thickened glomerular basement membrane, foot process effacement, and dense lamellar inclusions in swollen glomerular epithelial cells, similar to those seen in Fabry's disease. However, normal levels of plasma alpha-galactosidase A, normal urinary sediment glycosphingolipids and the absence of the clinical characteristics of Fabry's disease excluded this diagnosis. This case illustrates that electron-dense lamellar inclusions, similar to those seen in Fabry's disease, may be seen in other entities such as nephropathy associated with silicosis.
D000328:Adult; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000648:ultrastructure*; D005921:Glomerulonephritis / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007668:Kidney / Q000648:ultrastructure; D008168:Lung / Q000473:pathology; D008297:Male; D012829:Silicosis / Q000378:metabolism / Q000473:pathology*