Department of Cardiology, Inselspital, Bern University Hospital, Bern, Switzerland.
Department of Internal Medicine, University Hospital Zurich, Zurich, Switzerland.
Transplantation. 2018 Nov;102(11):1924-1933. doi: 10.1097/TP.0000000000002252.
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene that obliterate or markedly reduce α-galactosidase A activity. This results in the systemic accumulation of its glycosphingolipid substrates in body fluids and organs, including the kidney. Fabry nephropathy can lead to end-stage renal disease requiring kidney transplantation. Little is known about its long-term outcomes and the overall patient survival after kidney transplantation.
Here, we report 17 Fabry patients (15 male and 2 female subjects) who received kidney transplants and their long-term treatment and follow-up at 4 specialized Fabry centers.
The posttransplant follow-up ranged to 25 years, with a median of 11.5 (range, 0.8-25.5] years. Graft survival was similar, and death-censored graft survival was superior to matched controls. Fabry patients died with functioning kidneys, mostly from cardiac causes. In 2 male subjects 14 and 23 years posttransplant, the grafts had a few typical FD lamellar inclusions, presumably originating from invading host macrophages and vascular endothelial cells.
We conclude that kidney transplantation has an excellent long-term outcome in FD.
法布瑞病（FD）是一种罕见的 X 连锁溶酶体贮积症，由α-半乳糖苷酶 A 基因突变引起，导致α-半乳糖苷酶 A 活性完全或显著降低。这会导致其糖脂底物在体液和器官中全身积累，包括肾脏。法布瑞肾病可导致终末期肾病，需要进行肾移植。关于其长期结局以及肾移植后患者的总体存活率知之甚少。
在这里，我们报告了 17 名接受肾移植的法布瑞病患者（15 名男性和 2 名女性）及其在 4 个专门的法布瑞病中心的长期治疗和随访情况。
移植后的随访时间最长可达 25 年，中位数为 11.5 年（范围，0.8-25.5 年）。移植物存活率相似，且经死亡校正的移植物存活率优于匹配的对照组。法布瑞病患者在有功能的肾脏中死亡，主要死于心脏原因。在移植后 14 年和 23 年的 2 名男性患者中，移植物中存在一些典型的 FD 层状包涵体，推测源自入侵的宿主巨噬细胞和血管内皮细胞。
我们得出结论，肾移植在 FD 中具有极好的长期结局。
