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IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.

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IgA nephropathy in two adolescent sisters heterozygous for Fabry disease. / Whybra, Catharina; Schwarting, Andreas; Kriegsmann, Jörg; Gal, Andreas; Mengel, Eugen; Kampmann, Christoph; Baehner, Frank; Schaefer, Ellen; Beck, Michael.

in: PEDIATR NEPHROL, Jahrgang 21, Nr. 9, 9, 2006, S. 1251-1256.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Whybra, C, Schwarting, A, Kriegsmann, J, Gal, A, Mengel, E, Kampmann, C, Baehner, F, Schaefer, E & Beck, M 2006, 'IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.', PEDIATR NEPHROL, Jg. 21, Nr. 9, 9, S. 1251-1256. <http://www.ncbi.nlm.nih.gov/pubmed/16838183?dopt=Citation>

APA

Whybra, C., Schwarting, A., Kriegsmann, J., Gal, A., Mengel, E., Kampmann, C., Baehner, F., Schaefer, E., & Beck, M. (2006). IgA nephropathy in two adolescent sisters heterozygous for Fabry disease. PEDIATR NEPHROL, 21(9), 1251-1256. [9]. http://www.ncbi.nlm.nih.gov/pubmed/16838183?dopt=Citation

Vancouver

Whybra C, Schwarting A, Kriegsmann J, Gal A, Mengel E, Kampmann C et al. IgA nephropathy in two adolescent sisters heterozygous for Fabry disease. PEDIATR NEPHROL. 2006;21(9):1251-1256. 9.

Bibtex

@article{19bf65d86fed410e8517ad3d117aa5fd,
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.",
author = "Catharina Whybra and Andreas Schwarting and J{\"o}rg Kriegsmann and Andreas Gal and Eugen Mengel and Christoph Kampmann and Frank Baehner and Ellen Schaefer and Michael Beck",
year = "2006",
language = "Deutsch",
volume = "21",
pages = "1251--1256",
journal = "PEDIATR NEPHROL",
issn = "0931-041X",
publisher = "Springer",
number = "9",

}

RIS

TY - JOUR

T1 - IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.

AU - Whybra, Catharina

AU - Schwarting, Andreas

AU - Kriegsmann, Jörg

AU - Gal, Andreas

AU - Mengel, Eugen

AU - Kampmann, Christoph

AU - Baehner, Frank

AU - Schaefer, Ellen

AU - Beck, Michael

PY - 2006

Y1 - 2006

N2 - 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.

AB - 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.

M3 - SCORING: Zeitschriftenaufsatz

VL - 21

SP - 1251

EP - 1256

JO - PEDIATR NEPHROL

JF - PEDIATR NEPHROL

SN - 0931-041X

IS - 9

M1 - 9

ER -