Unravelling clinical and biochemical aspects of CFHR5

我最近在居住在伦敦的塞浦路斯血统的人中发现了一种称为“CFHR 5肾病”的遗传性肾病，并发现这种疾病是塞浦路斯肾衰竭的常见原因。这种疾病是由基因“CFHR5”的变化引起的，该基因被认为在控制免疫系统的一部分（身体对感染的防御）中起作用，称为补体。该项目的目的是首先了解CFHR5基因在健康人群中的功能，其次了解CFHR5肾病患者的功能如何改变，第三了解如何最好地治疗这种疾病。此外，该项目旨在找出CFHR5在其他常见肾脏疾病中发挥的作用，因为CFHR5可能为他们提供了一种全新的治疗方法。我将通过在实验室中研究该基因的功能并在不明原因的肾脏疾病患者中寻找CFHR5的其他异常来实现这一目标。我还将给CFHR 5肾病患者服用一种名为依库珠单抗的药物（目前用于治疗另一种疾病），以测试它是否能保护他们免受肾衰竭的影响。

I have recently discovered an inherited kidney disease called ‘CFHR5 nephropathy‘ among people with Cypriot ancestry living in London, and found that the disease is a common cause of kidney failure in Cyprus. The disease is caused by a change in the gene ‘CFHR5‘ which is thought to play a role in controlling a part of the immune system (the body‘s defences against infection) called complement. The aims of this project are to understand firstly the function of the CFHR5 gene in healthy people, secondly how this function is altered in people with CFHR5 nephropathy, and thirdly how the disease can best be treated. In addition, the project aims to find out what role CFHR5 plays in other common kidney diseases as it may be that CFHR5 offers a completely new type of treatment for them.I will do this by studying the function of the gene in the laboratory and looking for other abnormalities in CFHR5 in people with unexplained kidney disease. I will also give the drug called eculizumab (currently in routine use for a different disease) to people with CFHR5 nephropathy to test whether it protects them from kidney failure.