Unravelling clinical and biochemical aspects of CFHR5

我最近在居住在伦敦的塞浦路斯血统人群中发现了一种名为“CFHR5肾病”的遗传性肾脏疾病，并发现该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（身体抵御感染的防御）的一部分补体中起作用。该项目的目的是首先了解CFHR5基因在健康人中的功能，其次了解CFHR5肾病患者的功能是如何改变的，第三是如何最好地治疗这种疾病。此外，该项目旨在发现CFHR5在其他常见肾脏疾病中的作用，因为CFHR5可能为它们提供一种全新的治疗方法。为此，我将在实验室中研究该基因的功能，并在不明原因肾病患者中寻找CFHR5的其他异常。我还将给CFHR5肾病患者开一种名为eculizumab的药物（目前常规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.