Alport综合征精准诊治进展  

Progress of precise diagnosis and treatment for Alport syndrome

作　　者：丁洁[1] 张琰琴[1] 

机构地区：[1]北京大学第一医院儿科、儿科遗传性疾病分子诊断与研究北京市重点实验室,100034

出　　处：《中华肾病研究电子杂志》2016年第2期53-55,共3页Chinese Journal of Kidney Disease Investigation（Electronic Edition）

基　　金：国家自然科学基金项目(30830105,81170657,81070545,81400685);国家重点基础研究发展计划(2012CB517700);国家科技支撑计划项目(2012BAI03B02)

摘　　要：Alport综合征是由于编码Ⅳ型胶原α3/α4/α5链的基因突变导致的遗传性肾脏疾病,临床上表现为血尿、蛋白尿及进行性肾衰竭,部分患者合并耳聋和眼部改变。随着医学技术的进步,Alport综合征的诊断逐渐精确,诊断依据从最初的临床表现,到肾组织电镜典型的肾小球基底膜病理改变,再到目前广泛应用的基因突变检测。目前认为Alport综合征是可以治疗的疾病,尽早应用血管紧张素转换酶抑制剂(ACEI)和血管紧张素受体阻滞剂(ARB)可以推迟Alport综合征肾衰竭发生。Alport syndrome is caused by mutations in the COL4A3,COL4A4,and COL4A5 genes encoding the α3,α4,and α5 chains of collagen type Ⅳ,respectively,and is clinically characterized by hematuria,proteinuria,and progressive renal failure,with deafness and ocular lesions in some patients.With new improvement in medical technology,the diagnosis of Alport syndrome has been more and more exact,which was based from initial clinical manifestation to typical ultrastructural pathological changes of GBM,and to currently-widely-used mutations detection. At present,Alport syndrome is considered to be a treatable disease,and early use of angiotensin-converting enzyme（ ACE） inhibition and angiotensin receptor blockade（ ARB） may delay the onset of renal failure in Alport syndrome patients.

关 键 词：ALPORT综合征 肾衰竭 诊断 治疗 

分 类 号：R692.5[医药卫生—泌尿科学]