Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, 11 Mandalay Road, 308232, Singapore; Human Genetics, Genome Institute of Singapore, A(⁎)STAR, 138672, Singapore.
Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, 11 Mandalay Road, 308232, Singapore.
Curr Opin Genet Dev. 2019 Jun;56:69-75. doi: 10.1016/j.gde.2019.06.007. Epub 2019 Aug 30.
Polycystic kidney disease (PKD) is one of the most common genetic kidney diseases, characterized by the formation of fluid-filled renal cysts, which eventually lead to end-stage renal disease. Despite several decades of investigation, explicit molecular and cellular mechanisms underpinning renal cyst formation have been unresolved until recently, severely hampering the development of effective therapeutic approaches. Currently, most PKD therapies have been developed for limiting disease complications, such as hypertension. Although Tolvaptan has been approved for treating PKD in few countries, the associated hepatic toxicity remains a major concern. In this Review, we will discuss recent advances in PKD research, covering aspects ranging from newly identified genetic/epigenetic causes, increment in mechanistic interpretation, novel therapeutic targets, to the promises offered by emerging stem cell technologies.
多囊肾病(PKD)是最常见的遗传性肾脏疾病之一,其特征是形成充满液体的肾囊肿,最终导致终末期肾病。尽管经过了几十年的研究,但直到最近,肾脏囊肿形成的确切分子和细胞机制仍未得到解决,这严重阻碍了有效治疗方法的发展。目前,大多数 PKD 治疗方法都是为了限制疾病并发症而开发的,如高血压。尽管托伐普坦已在少数国家获得批准用于治疗 PKD,但相关的肝毒性仍然是一个主要问题。在这篇综述中,我们将讨论 PKD 研究的最新进展,涵盖了从新发现的遗传/表观遗传原因、机制解释的增加、新的治疗靶点到新兴干细胞技术所带来的希望等各个方面。