The risks of Thin basement membrane nephropathy (TBMN)

我们的目标是节省澳大利亚社区每年花费在TBMN不适当调查上的1000万美元；识别和治疗有肾损害风险的TBMN患者，以延缓肾衰竭的发生；了解潜在的疾病机制，以便开发特定的治疗方法；并为TBMN诊断检测的发展做出贡献，该检测可标记与肾脏损害相关的突变，并包括修饰基因的筛选试验。拟议的项目将通过为TBMN的临床定义提供证据来改变临床医生的做法，减少对肾脏活检和其他调查的需求，从而每年为澳大利亚社区节省高达1000万美元。周围性视网膜病变可以区分TBMN和x连锁Alport综合征。这也将是阿尔波特综合征诊断的重大进展。确定有蛋白尿（每日500毫克）或肾功能损害的持续性血尿患者实际患有TBMN的频率。确定TBMN中直接导致TBMN的基因以及修饰基因中肾脏损害的遗传危险因素。确定TBMN中基因突变和修饰基因导致疾病和易患肾脏损害的机制。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.