Guay-Woodford Lisa M, Henske Elizabeth, Igarashi Peter, Perrone Ronald D, Reed-Gitomer Berenice, Somlo Stefan, Torres Vicente E, Ketchum Christian J, Star Robert A, Flessner Michael F, Rasooly Rebekah S
Due to the number of contributing authors, the affiliations are provided in the Supplemental Material.
Clin J Am Soc Nephrol. 2014 Oct 7;9(10):1799-801. doi: 10.2215/CJN.03410414. Epub 2014 Jun 5.
Kidney disease is a significant medical and public health problem. The National Institute of Diabetes and Digestive and Kidney Diseases recently asked the community to identify research objectives, which, if addressed, could improve understanding of basic kidney function and aid in prevention, treatment, and reversal of kidney disease. The Kidney Research National Dialogue invited interested parties to submit, discuss, and prioritize ideas using an interactive website; 1600 participants posted more than 300 ideas covering all areas of kidney disease, including the cystic kidney diseases. Although much is known about the genetics and pathogenesis of cystic diseases, there remain challenges to our understanding of the fundamental mechanisms of cyst formation, what genes act as modifiers to cause variable responses in different people, and how to detect and monitor disease progression. This article summarizes key research questions for cystic kidney diseases.
肾脏疾病是一个重大的医学和公共卫生问题。美国国立糖尿病、消化和肾脏疾病研究所最近要求各界确定研究目标，若能实现这些目标，将有助于增进对肾脏基本功能的了解，并有助于预防、治疗和逆转肾脏疾病。肾脏研究全国对话邀请感兴趣的各方通过一个互动网站提交、讨论并对各种想法进行优先排序；1600名参与者提交了300多个涵盖肾脏疾病各个领域的想法，包括多囊肾病。尽管我们对囊性疾病的遗传学和发病机制已经有了很多了解，但在理解囊肿形成的基本机制、哪些基因作为修饰因子导致不同人出现不同反应，以及如何检测和监测疾病进展方面，仍然存在挑战。本文总结了多囊肾病的关键研究问题。
