实用临床医药杂志2024，Vol.28Issue(18)：135-141,7.DOI:10.7619/jcmp.20241414
Alport综合征的发病机制及诊疗研究进展
Research progress on pathogenesis and diagnosis and treatment of Alport syndrome
摘要
Abstract
Alport syndrome is a relatively common inherited kidney disease,characterized by significant clinical symptoms,which can lead to renal failure and progress to end-stage renal disease in the late stage.This disease does not only affect the renal system,but also involve other tissues and organs containing basement membranes.Recently,with the advancement of genetic engineering tech-nology,there has been a deeper understanding on the molecular pathogenesis of Alport syndrome,and the application of gene sequencing technology has provided new means for diagnosis,supplementing the traditional pathological examination method of renal biopsy.In addition,gene-based therapies are also under exploration,opening up new directions for future treatment strategies.This paper aimed to summarize the relevant knowledge of Alport syndrome based on the current progress in genetic resear-ches,with the hope of providing a theoretical basis for clinical practice.关键词
Alport综合征/基因突变/基因检测/基因治疗/发病机制Key words
Alport syndrome/gene mutation/gene detection/gene therapy/pathogenesis分类
医药卫生引用本文复制引用
张艳,邵乐平..Alport综合征的发病机制及诊疗研究进展[J].实用临床医药杂志,2024,28(18):135-141,7.基金项目
国家自然科学基金资助项目(82170717) （82170717）
