Alport综合征的治疗进展  

Advances in the treatment of Alport syndrome

作　　者：徐媛(综述) 邓芳(审校) Xu Yuan;Deng Fang(Department of Nephrology,Anhui Provincial Children′s Hospital,Hefei 230051,China)

机构地区：[1]安徽省儿童医院肾脏科,合肥230051

出　　处：《国际儿科学杂志》2023年第5期331-334,共4页International Journal of Pediatrics

基　　金：安徽省自然科学基金(210085MH262)。

摘　　要：Alport综合征(Alport syndrome,AS)是一种遗传性肾病,主要表现为血尿、蛋白尿和进行性肾功能衰竭。其特征是Ⅳ型胶原基因COL4A3/A4/A5突变导致肾小球基底膜缺陷,分别导致Ⅳ型胶原a3、a4和a5链缺陷。目前还没有预防或根治AS的方法,常规应用肾素-血管紧张素-醛固酮系统抑制剂,以减缓肾脏疾病的进展和延长生存期。在回顾性研究中发现雷米普利可以延迟终末期肾病的发生,支持了早期启动肾素-血管紧张素-醛固酮系统阻断是非常重要的。随着对AS发病机制了解的进展,目前正在研究的创新治疗方法的发展也达到高峰。该文将综述预防AS肾脏疾病进展的治疗新靶点。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 typeⅣcollagen genes COL4A3/A4/A5,which result in defective in the typeⅣa3,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.

关 键 词：遗传性肾病 ALPORT综合征 Ⅳ型胶原蛋白 治疗 

分 类 号：R726.9[医药卫生—儿科]