COL4A3基因新突变导致的Alport综合征1例并文献复习  

Alport syndrome caused by a new mutation of COL4A3 gene:a case report and literature review

作　　者：杨济 黄丽岚 侯月媛 缪长秀 白彝华[1] YANG Ji;HUANG Lilan;HOU Yueyuan;MIAO Changxiu;BAI Yihua(Department of Nephrology,the Second Affiliated Hospital of Kunming Medical University,Kunming,Yunnan 650101,China)

机构地区：[1]昆明医科大学第二附属医院肾脏内科,云南昆明650101

出　　处：《现代医药卫生》2024年第20期3510-3513,共4页Journal of Modern Medicine & Health

基　　金：云南省中青年学术和技术带头人后备人才项目(202005AC160024);兴滇英才支持计划(YNWR-QNBJ-2020-269);昆明医科大学联合专项基金(202201AY070001-101)。

摘　　要：Alport综合征(AS)是COL4An基因突变所导致的家族遗传性肾脏病,目前尚缺乏针对性的根治性疗法,且该病临床表现与遗传方式相关,极大阻碍了该病的临床诊断。现报道1例由COL4A3基因新突变位点所致AS患者的病历资料,从该患者的临床表现出发,回顾性分析该患者的诊疗经过,并对近几年疾病相关文献进行复习,提高临床对此病的认识,为该病的早期诊断及治疗提供帮助。Alport syndrome(AS)is a familial hereditary kidney disease caused by COL4An gene mutation.At present,there is no targeted radical therapy,and the clinical manifestations of the disease are related to the genetic pattern,which greatly hinders the clinical diagnosis of the disease.This article reports the medical records of a patient with AS caused by a new mutation site of COL4A3 gene.Based on the clinical manifestations of the patient,the diagnosis and treatment of the patient were retrospectively analyzed,and the literature related to the disease in recent years was reviewed to improve the clinical understanding of the disease and provide help for the early diagnosis and treatment of the disease.

关 键 词：COL4A3基因 ALPORT综合征 基因突变 病例报告 

分 类 号：R692.3[医药卫生—泌尿科学]