在一名IgA肾病患者中偶然发现法布里病。

Kakita Tomoko, Nagatoya Katsuyuki, Mori Tatsuhiko, Kobayashi Masahisa, Inoue Toru

Department of Nephrology , Osaka Medical College , 2-7 Daigaku-machi, Takatsuki, Osaka 569-8686 , Japan.

Department of Pediatrics , The Jikei University School of Medicine , 3-25-8 Nishishinbashi, Minato-ku, Tokyo 105-8461 , Japan.

NDT Plus. 2010 Oct;3(5):443-6. doi: 10.1093/ndtplus/sfq108. Epub 2010 Jun 16.

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.

我们报告一例患有IgA肾病并伴有法布里病的女性病例。她因蛋白尿和血尿转诊至我院。肾活检在光镜和免疫荧光显微镜下显示出提示IgA肾病的 findings。然而，电镜显示出具有法布里病特征的层状包涵体。她血清中的α-半乳糖苷酶活性较低，基因分析证实了法布里病的诊断。IgA肾病患者并发法布里病非常罕见，此前尚未有仅通过电镜诊断法布里病的报道。（注：这里findings没有特别准确合适的中文对应词，可结合上下文灵活处理，比如“表现”等）