title: Renal histology before and after effective enzyme replacement therapy in a patient with classical Fabry's disease.
abstract: 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.
authors.affiliation: Department of Nephrology, Hiroshima University Hospital, Hiroshima, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Hirashio
authors.forename: T
authors.initials: T
authors.lastname: Taguchi
authors.forename: T
authors.initials: T
authors.lastname: Naito
authors.forename: K
authors.initials: K
authors.lastname: Maki
authors.forename: S
authors.initials: S
authors.lastname: Ogata
authors.forename: K
authors.initials: K
authors.lastname: Taniyama
authors.forename: Y
authors.initials: Y
authors.lastname: Taniguchi
authors.forename: N
authors.initials: N
authors.lastname: Yorioka
mesh_terms: D000328:Adult; D001706:Biopsy; D003937:Diagnosis, Differential; D018450:Disease Progression; D004305:Dose-Response Relationship, Drug; D000795:Fabry Disease / Q000188:drug therapy* / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D007527:Isoenzymes / Q000008:administration & dosage / Q000627:therapeutic use*; D007678:Kidney Glomerulus / Q000648:ultrastructure*; D008297:Male; D008854:Microscopy, Electron; D000519:alpha-Galactosidase / Q000008:administration & dosage / Q000627:therapeutic use*
chemical_list: D007527:Isoenzymes; D000519:alpha-Galactosidase; C459420:agalsidase beta