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01-09-2006 | Original Article

IgA nephropathy in two adolescent sisters heterozygous for Fabry disease

Authors: Catharina Whybra, Andreas Schwarting, Jörg Kriegsmann, Andreas Gal, Eugen Mengel, Christoph Kampmann, Frank Baehner, Ellen Schaefer, Michael Beck

Published in: Pediatric Nephrology | Issue 9/2006

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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Title: IgA nephropathy in two adolescent sisters heterozygous for Fabry disease
Authors: Catharina Whybra
Andreas Schwarting
Jörg Kriegsmann
Andreas Gal
Eugen Mengel
Christoph Kampmann
Frank Baehner
Ellen Schaefer
Michael Beck
Publication date: 01-09-2006
Publisher: Springer-Verlag
Published in: Pediatric Nephrology / Issue 9/2006
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-006-0176-5

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IgA nephropathy in two adolescent sisters heterozygous for Fabry disease

Abstract

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