A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation

• Main Authors: Jorge H. Mukdsi (Author), Silvina Gutiérrez (Author), Belén Barrón (Author), Pablo Novoa (Author), Segundo Fernández (Author), Ana B de Diller (Author), Alicia I. Torres (Author), Richard N Formica Jr (Author), Marcelo Orías (Author)
• Format: Book
• Published: Society of Diabetic Nephropathy Prevention, 2012-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

Background: 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). Case Presentation: 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. Conclusions: This report represents an unusual renal variant of Fabry disease and provides histologic data on long-term follow up after enzyme replacement therapy.

Item Description

2251-8363
2251-8819
10.5812/nephropathol.8123