Abstract
Fabry disease is caused by an X-linked recessive inborn error of glycosphingolipid metabolism with deficient activity of a lysosomal enzyme, alpha-galactosidase A (α-GalA). A 46 year-old man with progressive kidney disease showed on kidney biopsy electron microscopic evidence of Fabry disease. The patient had no systemic manifestations of Fabry disease, despite residual α-GalA activity, therefore genetic testing was done by direct DNA sequencing, demonstrating a new GAL A gene mutation (C174G-exon 3). After three years of enzyme replacement therapy (agalsidase beta) treatment, a second biopsy was done. Although there was demonstrable clearance of intracellular inclusions, remarkable podocyte activation was evident. This report represents an unusual renal variant of Fabry disease and provides histologic data on long-term follow up after enzyme replacement therapy.
Highlights
Fabry disease is caused by an X-linked recessive inborn error of glycosphingolipid metabolism with deficient activity of a lysosomal enzyme, alphagalactosidase A (α-GalA)
The patient had no systemic manifestations of Fabry disease, despite residual α-galactosidase leukocyte levels (α-GalA) activity, genetic testing was done by direct DNA sequencing, demonstrating a new GAL A gene mutation (C174G-exon 3)
It is important for nephrologists to recognize this atypical clinical presentation, because it lacks classical signs and symptoms of Fabry disease
Summary
Fabry disease is caused by an X-linked recessive inborn error of glycosphingolipid metabolism with deficient activity of a lysosomal enzyme, alpha-galactosidase A (α-GalA). The enzymatic defect causes progressive accumulation of neutral glycosphingolipids, predominately globotriaosylceramide (GL-3), in renal and cardiac vascular endothelial cells [1]. The true prevalence is underestimated as many patients go undiagnosed due to a diverse symptom complex. A ‘renal variant’ phenotype was recently described in male patients who developed end-stage renal disease without classic extra-renal symptoms [2,3]. Another male patient with progressive kidney disease and renal limited Fabry disease on renal biopsy is presented
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