title: IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.
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.
authors.affiliation: Children's Hospital, University of Mainz, Langenbeckstr. 1, 55131, Mainz, Germany. c.whybra@web.de
authors.forename: Catharina
authors.initials: C
authors.lastname: Whybra
authors.forename: Andreas
authors.initials: A
authors.lastname: Schwarting
authors.forename: Jörg
authors.initials: J
authors.lastname: Kriegsmann
authors.forename: Andreas
authors.initials: A
authors.lastname: Gal
authors.forename: Eugen
authors.initials: E
authors.lastname: Mengel
authors.forename: Christoph
authors.initials: C
authors.lastname: Kampmann
authors.forename: Frank
authors.initials: F
authors.lastname: Baehner
authors.forename: Ellen
authors.initials: E
authors.lastname: Schaefer
authors.forename: Michael
authors.initials: M
authors.lastname: Beck
mesh_terms: D000328:Adult; D000795:Fabry Disease / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005922:Glomerulonephritis, IGA / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans