Hirashio S, Taguchi T, Naito T, Maki K, Ogata S, Taniyama K, Taniguchi Y, Yorioka N
Renal histology before and after effective enzyme replacement therapy in a patient with classical Fabry's disease. [JOURNAL ARTICLE]
Clin Nephrol 2009 May; Volume 71(May):550-556.
A 38-year-old man underwent renal biopsy because of proteinuria. It revealed swelling and vacuolation of glomerular epithelial cells, as well as myelin-like structures characteristic of Fabry's disease. Detection of decreased plasma activity of alpha-galactosidase A confirmed the diagnosis. Enzyme replacement therapy was provided with recombinant agalsidase-beta, resulting in improvement of his symptoms. When renal biopsy was repeated, specific staining for globotriaosylceramide showed that renal deposits were decreased by enzyme therapy.
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