Article
Pathological Renal Findings of Chronic Renal Failure in a Patient with the E66Q Mutation in the α-galactosidase A Gene.
Internal medicine (Tokyo, Japan) - 1 Jan 2015
Satomura Atsushi, Fujita Takayuki, Nakayama Tomohiro, Kusano Hiroyuki, Takayama Eiichi, Hamada Hiroaki, Maruyama Toshiharu
Abstract excerpt
A 66-year-old Japanese man was diagnosed with interstitial nephritis on a renal biopsy at 45 years of age and began to receive hemodialysis at 65 years of age. He was suspected of having Fabry disease as a result of a screening study for Fabry disease performed in hemodialysis patients. He had an E66Q mutation in the α-galactosidase A gene. We conducted an electron microscopic examination of a renal biopsy...
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