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Kakita T, Nagatoya K, Mori T, et al. Coincidental finding of Fabry's disease in a patient with IgA nephropathy. NDT Plus. 2010;3(5):443-6doi: 10.1093/ndtplus/sfq108.
Kakita, T., Nagatoya, K., Mori, T., Kobayashi, M., & Inoue, T. (2010). Coincidental finding of Fabry's disease in a patient with IgA nephropathy. NDT plus, 3(5), 443-6. https://doi.org/10.1093/ndtplus/sfq108
Kakita, Tomoko, et al. "Coincidental finding of Fabry's disease in a patient with IgA nephropathy." NDT plus vol. 3,5 (2010): 443-6. doi: https://doi.org/10.1093/ndtplus/sfq108
Kakita T, Nagatoya K, Mori T, Kobayashi M, Inoue T. Coincidental finding of Fabry's disease in a patient with IgA nephropathy. NDT Plus. 2010 Oct;3(5):443-6. doi: 10.1093/ndtplus/sfq108. Epub 2010 Jun 16. PMID: 25984048; PMCID: PMC4421683.
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NDT Plus. 2010 Oct;3(5):443-6. doi: 10.1093/ndtplus/sfq108. Epub 2010 Jun 16.

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

NDT plus

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

Affiliations

  1. Department of Nephrology , Osaka Medical College , 2-7 Daigaku-machi, Takatsuki, Osaka 569-8686 , Japan.
  2. Department of Pediatrics , The Jikei University School of Medicine , 3-25-8 Nishishinbashi, Minato-ku, Tokyo 105-8461 , Japan.

PMID: 25984048 PMCID: PMC4421683 DOI: 10.1093/ndtplus/sfq108

Abstract

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; IgA nephropathy; heterozygous female

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