Genetic Characteristics and Progress in Diagnosis and Treatment of Alport Syndrome
10.3870/j.issn.1004-0781.2024.12.015
- VernacularTitle:Alport综合征遗传学特征和诊治进展
- Author:
Panpan SHAO
1
;
Xueqing MA
;
Liru QIU
Author Information
1. 华中科技大学同济医学院附属同济医院儿童肾脏专科,武汉 430030
- Keywords:
Alport syndrome;
Genetic Characteristics;
Biomarkers;
Early diagnosis and treatment;
Prognosis
- From:
Herald of Medicine
2024;43(12):1971-1976
- CountryChina
- Language:Chinese
-
Abstract:
Alport syndrome is a type of hereditary kidney disease caused by mutations in the type Ⅳ collagen gene.Depending on the genetic mode,it can be divided into X-linked Alport syndrome,autosomal dominant Alport syndrome,autosomal recessive Alport syndrome,and digenic Alport syndrome.The clinical manifestations are heterogeneous,ranging from isolated hematuria or hematuria with proteinuria to progressive renal failure,with or without extrarenal manifestations.This article reviews the genetic characteristics,biomarkers,and treatment-related research of Alport syndrome,aiming to provide reference for enhancing early diagnosis and treatment and optimize long-term prognosis.
