Coincidental finding of Fabry's disease in a patient with IgA nephropathy

在一名患有IgA肾病的患者中偶然发现法布里病。

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Abstract

We present the case of a woman with IgA nephropathy and concomitant Fabry's disease. She was referred to our hospital with proteinuria and haematuria. A renal biopsy showed findings indicating IgA nephropathy under light and immunofluorescence microscopy. Electron microscopy, however, showed laminated inclusion bodies characteristic of Fabry's disease. The α-galactosidase activity in her serum was low, and the diagnosis of Fabry's disease was confirmed by genetic analysis. Fabry's disease in a patient with IgA nephropathy is a very rare occurrence, and Fabry's disease diagnosed only by electron microscopy has not been previously reported.

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