The risks of Thin basement membrane nephropathy (TBMN)

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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.