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IgA nephropathy in two adolescent sisters heterozygous for Fabry disease

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Abstract

We report a 16-year-old girl and her one-year-younger sister, both heterozygous for the c.34del24 mutation of the GLA (alpha-galactosidase A) gene, which they inherited from their father who is affected by Fabry disease (FD). Both girls presented with macrohematuria and rapidly progressing proteinuria. Urine analysis revealed glomerular hematuria and a nephrotic range of proteinuria suggesting a concomitant glomerulonephritis. Light microscopy of kidney biopsy was characteristic of IgA nephropathy (IgA deposits in mesangial areas and glomerular capillary loops, and mesangial hypercellularity), whereas electron microscopy showed changes typical of Fabry disease (multiple osmiophilic inclusions in the subendothelial and mesangial areas). These two cases and similar reports in the literature suggest that IgA nephropathy in FD is not merely coincidental.

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Acknowledgement

C. Whybra is a recipient of the NORD Roscoe O’ Brady Fellowship.

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Authors and Affiliations

  1. Children’s Hospital, University of Mainz, Langenbeckstr. 1, 55131, Mainz, Germany

    Catharina Whybra, Eugen Mengel, Christoph Kampmann, Frank Baehner & Michael Beck

  2. Department of Nephrology, University of Mainz, Mainz, Germany

    Andreas Schwarting

  3. Institute of Pathology, Trier, Germany

    Jörg Kriegsmann

  4. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

    Andreas Gal & Ellen Schaefer

Authors
  1. Catharina Whybra
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  2. Andreas Schwarting
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  3. Jörg Kriegsmann
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  4. Andreas Gal
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  5. Eugen Mengel
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  6. Christoph Kampmann
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  7. Frank Baehner
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  8. Ellen Schaefer
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  9. Michael Beck
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Correspondence to Catharina Whybra.

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Whybra, C., Schwarting, A., Kriegsmann, J. et al. IgA nephropathy in two adolescent sisters heterozygous for Fabry disease. Pediatr Nephrol 21, 1251–1256 (2006). https://doi.org/10.1007/s00467-006-0176-5

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  • DOI: https://doi.org/10.1007/s00467-006-0176-5

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