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
张艳 1邵乐平2
作者信息
- 1. 山东第二医科大学临床医学院,山东潍坊,261000
- 2. 山东省青岛市市立医院东院区肾内科,山东青岛,266000
- 折叠
摘要
Alport综合征是一种较为常见的遗传性肾脏疾病,其特征为患者表现出显著的临床症状,病情进展至晚期时可导致肾功能衰竭,进而演变为终末期肾病.此病症不仅对肾脏系统有影响,还涉及其他含有基底膜的组织和器官.近来,伴随基因工程技术的进步,针对Alport综合征的分子致病机制有了更深入的理解,并且基因测序技术的应用为诊断提供了新的手段,补充了传统的肾活检病理检查方法.此外,基于基因的治疗方法也正在探索之中,为未来的治疗策略开辟了新方向.本文旨在结合现代遗传学研究进展,综述Alport综合征的相关知识,以期为临床实践提供理论依据.
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引用本文复制引用
基金项目
国家自然科学基金资助项目(82170717)
出版年
2024
国家科技期刊平台
NSTL
万方数据