Advances in the treatment of Alport syndrome / 国际儿科学杂志

ABSTRACT

Alport syndrome(AS)is a hereditary nephropathy associated with hematuria, proteinuria and progressive kidney failure.It is characterized by a defective glomerular basement membrane caused by mutations in type Ⅳ collagen genes COL4A3/A4/A5, which result in defective in the type Ⅳa3, a4 and a5 chains respectively.At present, there is no preventive or curative therapies for AS.Inhibitors of the renin angiotensin aldosterone system are routinely used to slow the progression of kidney disease and prolong life expectancy.Ramipril was found in retrospective studies to delay the onset of end stage renal disease(ESRD), supporting that early initiation of renin angiotensin aldosterone system blockade is very important.Advances in our understanding on the pathogenesis of AS has culminated in the development of innovative therapeutic approaches that are currently under investigation.This review will briefly outline novel therapeutic targets for the prevention of renal disease progression in AS.