Article

IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.

Children's Hospital, University of Mainz, Langenbeckstr. 1, 55131, Mainz, Germany.
Pediatric Nephrology (impact factor: 2.52). 10/2006; 21(9):1251-6. DOI:10.1007/s00467-006-0176-5 pp.1251-6
Source: PubMed

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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Keywords

16-year-old girl
 
changes typical
 
concomitant glomerulonephritis
 
electron microscopy
 
girls
 
GLA
 
glomerular capillary loops
 
glomerular hematuria
 
IgA deposits
 
Light microscopy
 
mesangial areas
 
multiple osmiophilic inclusions
 
nephrotic range
 
one-year-younger sister
 
two cases
 
Urine analysis