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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease.

Although the accumulation of neutral glycosphingolipid (GSL), principally globotriaosylceramide ( GbOse3Cer ), in the kidney of patients with Fabry's disease is well documented, little is known about the type and quantity of lipid present in the renal tubular cells shed in the urine. Using a variety of cytologic technics, the authors examined exfoliated cells found in the urine specimens of patients hemizygous and heterozygous for alpha-galactosidase A deficiency. Renal tubular cells contained periodic acid- Shiff positive material that could be identified easily by Papanicolaou stain. A fluorescein-labeled antibody specific for GbOse3Cer localized this lipid to the cytoplasm. Electron microscopy showed numerous electron-dense multilamellar membranous inclusions within phagolysosomes and electronlucent material within lysosomes of tubular cells. Based on immunofluorescence, heterozygote individuals had similar distribution but less quantity of cytoplasmic GSL. The authors conclude that in Fabry's disease GSL accumulates probably in lysosomes of renal tubular cells. These cells are exfoliated and can be identified specifically in voided urine specimens. Examination of renal tubular cells in urine using the fluorescein antibody technic described here affords a noninvasive means of diagnosing and following the effect of therapy in patients with Fabry's disease.[1]


  1. Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease. Chatterjee, S., Gupta, P., Pyeritz, R.E., Kwiterovich, P.O. Am. J. Clin. Pathol. (1984) [Pubmed]
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