title: [A case of Fabry's disease detected by renal biopsy findings].
abstract: A 39 year-old man was found to have mild proteinuria by urinary examination since one year ago. He was for the first time diagnosed as having Fabry's disease by histopathological and electronmicroscopic findings of the renal biopsy specimens, which showed the presence of numerous vacuolated cells and electron dense bodies inside the cells. The level of WBC alpha-galactosidase was significantly lower than normal level. The pedigree of this patient showed a familial history of various types of renal disease. One of the patient's brothers also showed decreased level of WBC alpha-galactosidase, who has been treated by maintenance hemodialysis for 2 years. It is concluded that early diagnosis of this disease through renal biopsy and WBC alpha-galactosidase level is important to manage the future course of patients with Fabry's disease.
authors.affiliation: Second Department of Internal Medicine, Faculty of Medicine, Kagoshima University.
authors.forename: S
authors.initials: S
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Ito
authors.forename: T
authors.initials: T
authors.lastname: Ohashi
authors.forename: Y
authors.initials: Y
authors.lastname: Yasumoto
authors.forename: W
authors.initials: W
authors.lastname: Yamashita
authors.forename: R
authors.initials: R
authors.lastname: Harada
authors.forename: T
authors.initials: T
authors.lastname: Arima
authors.forename: K
authors.initials: K
authors.lastname: Osaki
authors.forename: A
authors.initials: A
authors.lastname: Nakashima
authors.forename: T
authors.initials: T
authors.lastname: Maeda
mesh_terms: D000328:Adult; D001706:Biopsy; D004796:Clinical Enzyme Tests; D000795:Fabry Disease / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000473:pathology* / Q000648:ultrastructure; D007962:Leukocytes / Q000201:enzymology; D008297:Male