title: Hemizygous Fabry disease associated with IgA nephropathy: a case report.
abstract: We present a 22-year-old male patient who showed both classical Fabry disease and IgA nephropathy. He had proteinuria (1.5 g/day), hypohidrosis and neuralgia with fever. Serum creatinine and blood urea nitrogen were 0.9 mg/dL and 11.4 mg/dL, respectively. Renal biopsy showed strikingly vacuolated podocytes and tubular epithelium cells. Myelin-like bodies were detected in podocytes, mesangial cells, endothelial cells and tubular epithelium cells by electron microscopy. On immunofluorescence microscopy, IgA and C3 deposits were detected in mesangial areas. From these results and a markedly low level of alpha-galactosidase A activity, this patient was diagnosed as having classical Fabry disease and IgA nephropathy.
authors.affiliation: Department of Nephrology, Tokyo Medical University, Ibaraki Medical Center, Ibaraki, Japan.
authors.forename: Homare
authors.initials: H
authors.lastname: Shimohata
authors.forename: Keigyou
authors.initials: K
authors.lastname: Yoh
authors.forename: Kenji
authors.initials: K
authors.lastname: Takada
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Tanaka
authors.forename: Joichi
authors.initials: J
authors.lastname: Usui
authors.forename: Kouichi
authors.initials: K
authors.lastname: Hirayama
authors.forename: Masaki
authors.initials: M
authors.lastname: Kobayashi
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Yamagata
mesh_terms: D000328:Adult; D001706:Biopsy; D003176:Complement C3 / Q000378:metabolism; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism; D005920:Glomerular Mesangium / Q000378:metabolism / Q000473:pathology; D005922:Glomerulonephritis, IGA / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans; D007070:Immunoglobulin A / Q000378:metabolism; D008297:Male; D000519:alpha-Galactosidase / Q000378:metabolism
chemical_list: D003176:Complement C3; D007070:Immunoglobulin A; D000519:alpha-Galactosidase