肾小球基底膜与遗传性肾脏病研究进展  

The advances of glomerular basement membrane and inherited kidney disease

作　　者：周志琪 吴滢[1] Zhou Zhiqi;Wu Ying(Department of Nephrology and Rheumatology,Shanghai Children’s Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200333,China)

机构地区：[1]上海交通大学医学院附属儿童医院,上海市儿童医院肾脏风湿科,上海200333

出　　处：《国际遗传学杂志》2024年第3期202-208,共7页International Journal of Genetics

基　　金：上海市儿童医院临床研究培育专项重点项目(2019YLYZ02)。

摘　　要：肾小球基底膜(glomerular basement membrane, GBM)是肾脏滤过屏障的重要组成部分, 其正常的结构和功能是维持肾脏滤过的基础。肾小球基底膜的物质组成包括Ⅳ型胶原、层黏蛋白及其他蛋白多糖类物质等, 当编码相关物质的基因发生突变时, 会引起基底膜异常而导致薄基底膜肾病、Alport综合征、Pierson综合征等一系列与基底膜相关的遗传性肾脏疾病。因此从基底膜的物质组成出发, 阐述基因突变与基底膜结构缺陷之间的关系, 有助于提高临床上对肾小球基底膜相关的遗传性肾脏病的认识与诊治, 对探索修复基底膜等新疗法有重要意义。The glomerular basement membrane(GBM)is one of the components of glomerular filtration membrane,which is essential for its normal structure and filtration function.The material compositions of GBM include typeⅣcollagen,laminin,and other proteoglycans.When the genes are mutated,it will cause abnormalities of basement membrane and lead to a series of genetic kidney diseases such as thin basement membrane nephropathy,Alport syndrome and Pierson syndrome.Therefore,from the perspective of material composition of GBM,it is significant to comprehend and clarify the relationships between structures and functions of GBM,so as to improve medical diagnosis level and explore new therapies for repairing the basement membrane in the future.

关 键 词：肾小球基底膜 Ⅳ型胶原 层黏蛋白 遗传性肾小球基底膜病 

分 类 号：R692[医药卫生—泌尿科学]