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


METHODS
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.
Centro de Microscopía Electrónica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, and Haya de la Torre esquina Enrique Barros, Ciudad Universitaria, Córdoba, Argentina.
Jorge
J
H Mukdsi
Centro de Microscopía Electrónica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, and Haya de la Torre esquina Enrique Barros, Ciudad Universitaria, Córdoba, Argentina.
Silvina
S
Gutiérrez
Servicio de Nefrología, Sanatorio Allende, Bernardo de Irigoyen 384, Córdoba, Argentina.
Belén
B
Barrón
Servicio de Nefrología, Sanatorio Allende, Bernardo de Irigoyen 384, Córdoba, Argentina.
Pablo
P
Novoa
CIPERCA Centro de diálisis, Catamarca, Argentina.
Segundo
S
Fernández
Centro de Microscopía Electrónica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, and Haya de la Torre esquina Enrique Barros, Ciudad Universitaria, Córdoba, Argentina.
Ana B
AB
de Diller
Centro de Microscopía Electrónica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, and Haya de la Torre esquina Enrique Barros, Ciudad Universitaria, Córdoba, Argentina.
Alicia
A
I Torres
Department of Medicine, Section of Nephrology, Yale University School of Medicine, USA.
Richard N
RN
Formica
Servicio de Nefrología, Sanatorio Allende, Bernardo de Irigoyen 384, Córdoba, Argentina.
Marcelo
M
Orías
Enzyme replacement therapy; Fabry disease; Kidney electron microscopy