Article
The frequency of Fabry disease with the E66Q variant in the α-galactosidase A gene in Japanese dialysis patients: a case report and a literature review.
Clinical nephrology - 1 Sept 2012
Kikumoto Y, Sugiyama H, Morinaga H, Inoue T, Takiue K, Kitagawa M, Saito D, Takatori Y, Kinomura M, Kitamura S, Akagi S, Sada K, Nakao K, Maeshima Y, Kitayama H, Makino H
Abstract excerpt
Fabry disease (FD) is an Xlinked disorder resulting in a deficiency in α-galactosidase A (α-Gal) activity. FD is one of the causes of progressive renal dysfunction, but its diagnosis is often delayed or missed completely. We herein report the case of a 70-year-old male who had been receiving hemodialysis (HD) for 23 y who was diagnosed with FD after his participation in a screening program for plasma α-Gal...
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