title: A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody.
abstract: We describe a female patient with heterozygous Fabry's disease. The patient had persistent proteinuria and microhematuria but lacked any other diagnostic signs such as corneal and cutaneous involvement. Kidney tissue obtained at biopsy showed the segmentally distributed enlarged glomerular epithelia. These cells were filled with vacuolated foamy cytoplasm, which had lamellar and myelinoid structures under electronmicroscopic observation. Accumulation of trihexosylceramide (CTH) in these foamy epithelial cells was confirmed with immunohistochemical staining with the use of anti-CTH monoclonal antibody. Alpha-galactosidase activity of leukocytes was 67 nmol/mg protein/hr, which was approximately half that of the normal population (mean +/- SD, 147 +/- 65 nmol/mg protein/hr, n = 20). All of these findings were compatible with the diagnosis of heterozygous Fabry's disease. We recommend that kidney tissue biopsy specimens suggesting Fabry's disease be immunostained with anti-CTH antibody.
authors.affiliation: Department of Internal Medicine, Kurashiki Central Hospital, Okayama, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Fukushima
authors.forename: Y
authors.initials: Y
authors.lastname: Tsuchiyama
authors.forename: T
authors.initials: T
authors.lastname: Nakato
authors.forename: T
authors.initials: T
authors.lastname: Yokoi
authors.forename: H
authors.initials: H
authors.lastname: Ikeda
authors.forename: S
authors.initials: S
authors.lastname: Yoshida
authors.forename: T
authors.initials: T
authors.lastname: Kusumoto
authors.forename: K
authors.initials: K
authors.lastname: Itoh
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
mesh_terms: D000911:Antibodies, Monoclonal; D001706:Biopsy; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D007668:Kidney / Q000378:metabolism* / Q000648:ultrastructure; D007962:Leukocytes / Q000201:enzymology; D008875:Middle Aged; D014281:Trihexosylceramides / Q000032:analysis*; D000519:alpha-Galactosidase / Q000097:blood
chemical_list: D000911:Antibodies, Monoclonal; D014281:Trihexosylceramides; D000519:alpha-Galactosidase