The role and regulation of Hepatocyte Nuclear Factor-1 Beta in man

儿童和年轻人肾衰竭的主要原因是肾脏发育过程中的问题，导致它不能正常工作。埃克塞特团队和其他国际组织的研究表明，肾脏发育不良的最常见原因(约30%)是肝细胞核因子-1 Beta(HNF1B)基因的变化。当HNF1B基因发生变化时，包括胰腺在内的其他器官的发育也会受到影响，这意味着许多患者也会患上糖尿病。这个项目将研究一大群HNF1B基因发生变化的患者，使我们能够了解HNF1B在人类中所起的作用。这项工作将帮助我们更好地了解HNF1B突变患者的肾脏疾病，提供有关他们长期预后的信息，并可能改善对影响肾脏和其他器官的疾病的治疗。对肾脏发育障碍具有重要意义的新基因的识别将提高我们对人类肾脏疾病如何发展的理解。

The major causes of kidney failure in children and young adults are problems in the development of the kidney resulting in it not working properly. Research by the Exeter team and other international groups has shown that the commonest cause (approximately 30%) of poor development of the kidney is a change in the Hepatocyte Nuclear Factor-1 Beta (HNF1B) gene. Development of other organs is also affected when HNF1B is changed, including the pancreas, which means many patients also develop diabetes. This project will study a large group of patients with changes in the HNF1B gene to enable us to understand the role HNF1B plays in humans. Additional genetic studies will be undertaken to find which other genes regulate HNF1B and to find other genes that can cause kidney disease.This work will help us to better understand kidney disease in patients with mutations in HNF1B, provide information about their long-term prognosis and will potentially lead to improvements in management of a condition which affects the kidney and other organs. The identification of new genes of importance to renal developmental disorders will improve our understanding of how kidney disease develops in man.