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

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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.