Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.
Br J Haematol. 2010 Jan;148(1):37-47. doi: 10.1111/j.1365-2141.2009.07916.x. Epub 2009 Oct 11.
Atypical haemolytic uraemic syndrome (aHUS) is associated with a poor prognosis with regard to survival at presentation, recovery of renal function and transplantation. It is now established that aHUS is a disease of complement dysregulation with mutations in the genes encoding both complement regulators and activators, and autoantibodies against the complement regulator factor H. Identification of the underlying molecular abnormality in an individual patient can now help to guide their future management. In these guidelines we make recommendations for the investigation and management of aHUS patients both at presentation and in the long-term. We particularly address the role of renal transplantation alone and combined liver-kidney transplantation.
非典型溶血性尿毒症综合征（aHUS）与就诊时的生存预后、肾功能恢复和移植相关不良预后有关。目前已经确定，aHUS 是一种补体失调疾病，其发病与编码补体调节蛋白和激活蛋白的基因突变以及针对补体调节蛋白因子 H 的自身抗体有关。个体患者潜在分子异常的确定有助于指导其未来的管理。在这些指南中，我们针对就诊时和长期的 aHUS 患者的检查和管理提出了建议。我们特别探讨了单独肾移植和肝肾联合移植的作用。
