Aasebø Willy, Strøm Erik H, Hovig Torstein, Undset Liv H, Heiberg Arvid, Jenssen Trond
Section of Nephrology, Rikshospitalet, Oslo University Hospital, 0027, Oslo, Norway.
Section of Nephrology, Akerhus University Hospital, Sykehusveien 25, 1474 Norbyhagen, Norway.
NDT Plus. 2010 Jun;3(3):303-305. doi: 10.1093/ndtplus/sfq036. Epub 2010 Apr 8.
Enzyme replacement therapy (ERT) has been introduced for Fabry disease and has been reported to clear some renal cell types of accumulated glycolipids and to reduce the accumulation in other cell types. We describe two patients without Fabry disease who were transplanted with kidney allografts from a male donor with Fabry disease. Biopsies were taken at transplantation and after 3 years in the first case and after 12 years in the second case. Even though these Fabry kidney allografts for many years had been exposed to normal levels of circulating α-galactosidase A (α-gal-A), the amount of accumulated lysosomal deposits in the podocytes remained unchanged. Additionally, small deposits were also found in tubular cells and glomerular endothelial cells as long as 12 years after transplantation.
酶替代疗法（ERT）已被用于治疗法布里病，据报道，该疗法可清除某些肾细胞类型中积累的糖脂，并减少其他细胞类型中的积累。我们描述了两名非法布里病患者，他们接受了来自一名患有法布里病的男性供体的同种异体肾移植。第一例患者在移植时及3年后进行了活检，第二例患者在12年后进行了活检。尽管这些法布里病肾移植多年来一直暴露于正常水平的循环α-半乳糖苷酶A（α-gal-A）中，但足细胞中积累的溶酶体沉积物数量并未改变。此外，在移植后长达12年的时间里，肾小管细胞和肾小球内皮细胞中也发现了少量沉积物。
