The risks of Thin basement membrane nephropathy (TBMN)

我们的目标是节省澳大利亚社区每年在TBMN不当调查上花费的1,000万美元；识别和治疗有肾损害风险的TBMN患者，以推迟肾功能衰竭的发生；了解潜在的疾病机制，以便开发具体的治疗方法；并有助于开发一种TBMN诊断试验，该方法可标记与肾损害相关的突变，并包括一项修改基因的筛查测试。拟议的项目将改变临床医生的做法，为我们对TBMN的临床定义提供证据，并减少对肾脏活检和其他检查的需求，从而每年为澳大利亚社区节省高达1000万美元。证明外周视网膜病变是TBMN和X连锁Alport综合征的区别。这也将是Alport综合征诊断方面的重大进步。确定有蛋白尿500毫克/天或肾功能损害的持续性血尿患者实际发生TBMN的频率。在直接导致TBMN的基因和修饰基因中确定导致TBMN肾损害的遗传危险因素。确定TBMN中的基因突变和修饰基因导致疾病和易感肾损害的机制。了解这些机制是开发特定治疗方法的第一步。

Our aims are to save the $10 million spent on inappropriate investigations in TBMN each year by the Australian community; to identify and treat individuals with TBMN at risk of renal impairment in order to delay the onset of kidney failure; to understand the underlying disease mechanisms in order to develop specific treatments; and to contribute to the development of a diagnostic assay for TBMN that flags mutations associated with renal impairment and includes a screening test for modifying genes. The proposed project will change the practice of clinicians by providing evidence for our clinical definition of TBMN and reduce the need for renal biopsies and other investigations thus saving the Australian community up to $10 million annually. demonstrate that a peripheral retinopathy distinguishes between TBMN and X-linked Alport syndrome. This will be a major advance in the diagnosis of Alport syndrome too. determine how often individuals with persistent haematuria who have proteinuria >500 mg-day or renal impairment actually have TBMN. identify the genetic risk factors for renal impairment in TBMN in both the genes directly responsible for TBMN as well as in the modifying genes. determine the mechanisms by which genetic mutations and modifying genes in TBMN cause disease and predispose to renal impairment. Understanding these mechanisms is the first step in the development of specific treatments.