Understanding the causes of childhood congenital anomalies of the kidney and urinary tract

了解儿童肾脏和泌尿道先天性异常的原因

• 批准号: nhmrc : 1021532
• 负责人: A/Pr Paul James
• 金额: $ 40.66万
• 依托单位: Monash University
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2012
• 资助国家: 澳大利亚
• 起止时间: 2012-01-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/understanding-causes-childhood-urinary-tract/110129
• 关键词: Understanding; causes; childhood; congenital; anomalies

Congenital anomalies of the kidney and urinary tract (CAKUT) is a common cause of renal failure in children. The majority of patients with CAKUT do not know the underlying cause of their renal anomalies. In this proposal we will characterise the developmental events that are perturbed in three mouse models of CAKUT and identify the causal gene responsible in each mouse model. We will translate this information to the clinic by screening patients with CAKUT for mutations in these newly identified genes.

先天性肾和尿路异常（ckut）是儿童肾功能衰竭的常见原因。大多数ckut患者不知道其肾脏异常的根本原因。在本提案中，我们将描述三种CAKUT小鼠模型中受到干扰的发育事件，并确定每种小鼠模型中负责的致病基因。我们将通过筛查这些新发现的基因突变的CAKUT患者将这些信息转化为临床。