Alport综合征的精准诊断与治疗干预

Precision diagnosis and therapeutic intervention of Alport syndrome

Alport综合征是最常见的遗传性肾脏病之一,由Ⅳ型胶原基因突变所致,其遗传方式复杂,临床表现多样,病情重者将快速进展至终末期肾脏病。随着基因检测技术的快速发展,对Alport综合征遗传谱系、临床治疗方法的有效性以及疾病预后预测等方面有了更加深入的认识。本文旨在介绍Alport综合征的诊治最新进展,以提升其早期诊断与规范化治疗水平。

Alport syndrome is one of the most common inherited kidney diseases caused by mutations in the typeⅣcollagen genes.It has a complex pattern of inheritance and diverse clinical manifestations,and severe cases will rapidly progress to end-stage kidney disease.With the rapid development of genetic testing technology,there is a deeper understanding of the genetic spectrum of Alport syndrome,the effectiveness of clinical therapies,and the prediction of disease prognosis.Therefore,the purpose of the article is to introduce the advances in the diagnosis and treatment of Alport syndrome,aiming to improve the early diagnosis and standardized treatment of this disease.