Journal Article

Coincidental finding of Fabry’s disease in a patient with IgA nephropathy

Tomoko Kakita, Katsuyuki Nagatoya, Tatsuhiko Mori, Masahisa Kobayashi and Toru Inoue

in Clinical Kidney Journal

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 3, issue 5, pages 443-446
Published in print October 2010 | ISSN: 1753-0784
Published online June 2010 | e-ISSN: 1753-0792 | DOI: https://dx.doi.org/10.1093/ndtplus/sfq108

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We present the case of a woman with IgA nephropathy and concomitant Fabry’s disease. She was referred to our hospital with proteinuria and haematuria. A renal biopsy showed findings indicating IgA nephropathy under light and immunofluorescence microscopy. Electron microscopy, however, showed laminated inclusion bodies characteristic of Fabry’s disease. The α-galactosidase activity in her serum was low, and the diagnosis of Fabry’s disease was confirmed by genetic analysis. Fabry’s disease in a patient with IgA nephropathy is a very rare occurrence, and Fabry’s disease diagnosed only by electron microscopy has not been previously reported.

Keywords: Fabry’s disease; heterozygous female; IgA nephropathy

Journal Article.  1879 words.  Illustrated.

Subjects: Nephrology

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