title: Coexistence of Fabry Disease and Membranous Nephropathy.
abstract: A 21-year-old man with no family history or characteristic symptoms of Fabry disease presented with proteinuria. Histological and immunofluorescent analysis of kidney tissue collected revealed stage 1 membranous nephropathy. Electron microscopy of the same tissue revealed a large number of myeloid bodies (zebra bodies) in the glomerular epithelial cytoplasm and a mild irregular thickening of basement membrane. A diagnosis of Fabry disease was supported by the low α-galactosidase A activity detected in the patient's plasma, and confirmed by the detection of a pathogenic homozygous mutation in the α-galactosidase A gene. Therefore, the final diagnosis was of coexistent Fabry disease and stage 1 membranous nephropathy. This is the first case study reporting the coexistence of Fabry disease and membranous nephropathy. Our results emphasize the importance of electron microscopy in Fabry disease diagnosis.
authors.affiliation: Department of Nephrology, the First Hospital of Dalian Medical University, Dalian, China. yyly80@sina.com.
authors.forename: Ying
authors.initials: Y
authors.lastname: Liu
authors.forename: Hua
authors.initials: H
authors.lastname: Xie
authors.forename: Hongli
authors.initials: H
authors.lastname: Lin
authors.forename: Shuni
authors.initials: S
authors.lastname: Chen
authors.forename: Weidong
authors.initials: W
authors.lastname: Wang
authors.forename: Guangben
authors.initials: G
authors.lastname: Zhao
authors.forename: Xu
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000795:Fabry Disease / Q000150:complications* / Q000473:pathology; D015433:Glomerulonephritis, Membranous / Q000150:complications* / Q000473:pathology; D006801:Humans; D008297:Male; D055815:Young Adult