J Nephropathol. 2012;1(3): 194-197.
doi: 10.5812/nephropathol.8123
PMID: 24475416
PMCID: PMC3886146
Scopus ID: 84867407858
  Abstract View: 2644
  PDF Download: 1243

Case Report

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

Jorge H. Mukdsi 1 * , Silvina Gutiérrez 1, Belén Barrón 1, Pablo Novoa 2, Segundo Fernández 3, Ana B de Diller 4, Alicia I. Torres 1, Richard N Formica Jr. 5, Marcelo Orías 2

1 Centro de Microscopía Electrónica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, and Haya de la Torre esquina Enrique Barros, Ciudad Universitaria, Córdoba, Argentina.
2 Servicio de Nefrología, Sanatorio Allende, Bernardo de Irigoyen 384, Córdoba, Argentina.
3 CIPERCA Centro de diálisis, Catamarca, Argentina.
4 Servicio de Patología-Hospital Privado, Naciones Unidad 346, Córdoba, Argentina.
5 Department of Medicine, Section of Nephrology, Yale University School of Medicine, USA.
*Corresponding author: Jorge H. Mukdsi, Haya de la Torre esquina Enrique Barros, Ciudad Universitaria, Córdoba, Argentina. Phone/Fax: 54-351-4333021. jmukdsi@cmefcm.uncor.edu


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.

Keywords: Fabry disease, Kidney electron microscopy, Enzyme replacement therapy

Implication for health policy/practice/research/medical education:

There are forms of Fabry disease in which renal involvement is most prominent and together with the cardiac variant, represent single disorder extreme phenotypes. It is important for nephrologists to recognize this atypical clinical presentation, because it lacks classical signs and symptoms of Fabry disease.

Please cite this paper as: Mukdsi JH, Gutiérrez S, Belén Barrón B, Novoa P, Fernández S, De Diller AB, Torres AI, Formica RN Jr, Orías M.A Renal Variant of Fabry Disease: A case with a novel Gal A hemizygote mutation. J Nephropathology. 2012; 1(3): 194-197. DOI: 10.5812/nephropathol.8123

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ePublished: 01 Oct 2012
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