title: A characteristic dissection microscopy appearance of a renal biopsy of a Fabry heterozygote.
abstract: We report a 15-year-old Fabry heterozygote presenting to us with asymptomatic proteinuria. During the dissection-microscopic examination, the glomeruli exhibited a characteristic swollen, glistening and white appearance. They were swollen and bulged out from the surface of the renal core. The glomerular tufts appeared to be filled with opaque and whitish material giving them a pale white discoloration. This appearance is due to the accumulation of glycosphingolipids in visceral epithelial cells of the kidney. This feature is important for the investigation of female patients with asymptomatic proteinuria, as in two thirds of Fabry heterozygotes the characteristic skin lesions are absent, and thus heterozygous Fabry disease may not be considered. We suggest that this easily demonstrable appearance can be the first evidence for the disease and pathologists should be aware of it in future.
authors.affiliation: Department of Pathology, Princess Margaret Hospital, Lai Chi Kok, Hong Kong.
authors.forename: N W
authors.initials: NW
authors.lastname: Yuen
authors.forename: C W
authors.initials: CW
authors.lastname: Lam
authors.forename: T C
authors.initials: TC
authors.lastname: Chow
authors.forename: M C
authors.initials: MC
authors.lastname: Chiu
mesh_terms: D000293:Adolescent; D001706:Biopsy; D004847:Epithelial Cells / Q000648:ultrastructure; D000795:Fabry Disease / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007678:Kidney Glomerulus / Q000473:pathology* / Q000648:ultrastructure; D008855:Microscopy, Electron, Scanning; D011507:Proteinuria / Q000209:etiology; D014556:Urine / Q000166:cytology