title: Pathological Renal Findings of Chronic Renal Failure in a Patient with the E66Q Mutation in the α-galactosidase A Gene.
abstract: A 66-year-old Japanese man was diagnosed with interstitial nephritis on a renal biopsy at 45 years of age and began to receive hemodialysis at 65 years of age. He was suspected of having Fabry disease as a result of a screening study for Fabry disease performed in hemodialysis patients. He had an E66Q mutation in the α-galactosidase A gene. We conducted an electron microscopic examination of a renal biopsy specimen obtained when the patient was diagnosed with chronic renal failure at 45 years of age in order to elucidate the pathogenicity of the E66Q mutation. Interestingly, an electron microscopic examination of the renal biopsy specimen indicated no characteristic findings of Fabry disease.
authors.affiliation: Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Satomura
authors.forename: Takayuki
authors.initials: T
authors.lastname: Fujita
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Nakayama
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kusano
authors.forename: Eiichi
authors.initials: E
authors.lastname: Takayama
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Hamada
authors.forename: Toshiharu
authors.initials: T
authors.lastname: Maruyama
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D004789:Enzyme Activation; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007676:Kidney Failure, Chronic / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D008297:Male; D008854:Microscopy, Electron; D009154:Mutation; D009395:Nephritis, Interstitial / Q000150:complications / Q000175:diagnosis*; D006435:Renal Dialysis; D051436:Renal Insufficiency, Chronic / Q000235:genetics; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase