Hemizygous Fabry disease associated with IgA nephropathy: a case report

Please use this identifier to cite or link to this item: http://hdl.handle.net/2241/107937

Title:	Hemizygous Fabry disease associated with IgA nephropathy: a case report
Authors:	Shimohata, Homare Yoh, Keigyou Takada, Kenji Tanaka, Hiroaki Usui, Joichi Hirayama, Kouichi Kobayashi, Masaki Yamagata, Kunihiro 楊, 景堯臼井, 丈一山縣, 邦弘
Issue Date:	Sep-2009
Publisher:	Wichtig Editore
Journal Title:	Journal of nephrology
Volume:	22
Issue:	5
Start Page:	682
End Page:	684
PMID:	19810002
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 α-galactosidase A activity, this patient was diagnosed as having classical Fabry disease and IgA nephropathy.
URI:	http://hdl.handle.net/2241/107937
Rights:	© Società Italiana di Nefrologia
Text Version:	author
Appears in Collections:	楊景堯 (Yoh Keigyou) 臼井丈一 (Usui Joichi) 山縣邦弘 (Yamagata Kunihiro) Journal of nephrology

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