首页|Alport综合征的诊治进展

Alport综合征的诊治进展

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Alport综合征是由COL4A3、COL4A4或COL4A5基因突变所致的遗传性肾脏疾病,主要表现为血尿、蛋白尿、听力损伤以及眼部病变.近十年来,随着基因检测技术在医学实践中的普及,更新了我们对于该病流行率及诊断方式的认知.尽管目前Alport综合征尚缺乏病因性治疗,但早期使用肾素-血管紧张素-醛固酮系统阻滞剂仍可以极大程度改善患者预后,并且多种新的治疗药物以及治疗方法正在研究阶段,将为患者带来新的希望.本文主要就Alport综合征的临床表现、诊断及治疗方面的最新进展做一综述,以期实现该病的早期诊治并优化患者的临床管理.
Progress in diagnosis and treatment of Alport syndrome
Alport syndrome is an inherited kidney disease caused by mutations in the COL4A3,COL4A4,or COL4A5 genes.The disease is characterized by hematuria,proteinuria,hearing loss,and ocular lesions.In the last decade,our knowledge of the prev-alence and diagnostic modalities of the disease has been updated with the popularization of genetic testing technology in medical practice.Despite the lack of etiologic treatment for Alport syndrome,early use of renin-angiotensin-aldosterone system blockers can dramatically improve the prognosis of patients.A variety of new therapeutic agents as well as therapeutic approaches are under investigation,which will bring new hope to patients.This article mainly reviews the latest progress in the clinical manifestations,diagnosis,and treatment of the disease,in order to achieve early diagnosis and treatment of the disease and optimize the clinical man-agement for patients.

Alport syndromeGenetic testingDiagnosticTreatment

狄泓伶、李贵森

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四川省医学科学院·四川省人民医院(电子科技大学附属医院)肾内科,四川 成都 610072

Alport综合征 基因检测 诊断 治疗

国家自然科学基金资助项目四川省中央引导地方科技发展专项项目

820706902023ZYD0170

2024

实用医院临床杂志
四川省医学科学院 四川省人民医院

实用医院临床杂志

CSTPCD
影响因子:1.179
ISSN:1672-6170
年,卷(期):2024.21(5)