常染色体显性遗传多囊肾病的研究进展  

Research progress of autosomal dominant polycystic kidney disease

作　　者：陈双剑 廖宏亮 赵德志 姜昕 马端[3] CHEN Shuangjian;LIAO Hongliang;ZHAO Dezhi;JIANG Xin;MA Duan(Graduate School,Jiangxi University of Chinese Medicine,Jiangxi Province,Nanchang 330103,China;Zhongke Gene Biotechnology(Jiangsu)Co,Ltd.,Jiangsu Province,Nantong 226133,China;Key Laboratory of Metabolic Molecular Medicine,Ministry of Education,Fudan University,Shanghai 200032,China)

机构地区：[1]江西中医药大学研究生院,江西南昌330103 [2]中科基因生物科技(江苏)有限公司,江苏南通226133 [3]复旦大学代谢分子医学教育部重点实验室,上海200032

出　　处：《中国当代医药》2023年第16期18-21,27,共5页China Modern Medicine

基　　金：国家重点研发计划“生育健康及妇女儿童健康保障”重点专项(2021YFC2701000)。

摘　　要：常染色体显性遗传多囊肾病(ADPKD)是最常见的肾脏遗传性疾病,临床表现为双侧肾囊肿、肝囊肿和颅内动脉瘤风险增加,随着肾脏损伤和肾功能进行性减退,最终导致尿毒症的发生。ADPKD具有基因遗传异质性,约93%病例是由PKD1基因和PKD2基因突变引起,约7%是由罕见的基因突变位点所致。目前尚无阻止ADPKD进展的治疗手段,然而通过基因检测对囊性肾病多种致病基因进行全面筛查,可提高ADPKD诊断和预后的准确性。近年来,随着分子遗传学的快速发展,ADPKD的个性化治疗研究不断取得突破。本文主要对ADPKD流行病学、分子遗传学特征、临床诊断和治疗等方面进行综述。Autosomal dominant polycystic kidney disease(ADPKD)is the most common hereditary disease of the kidney.The clinical manifestations are bilateral renal cysts,liver cysts,and intracranial aneurysm risks.With the kidney damage and progressive decline of renal function,eventually lead to the occurrence of uremia.ADPKD has genetic heterogeneity.About 93%of cases are caused by PKD1 gene and PKD2 gene mutations,and only about 7%are caused by rare gene mutation sites.Currently,there is no treatment to prevent the progression of ADPKD.However,comprehensive screening of multiple pathogenic genes in cystic nephropathy through genetic testing can improve the accuracy of diagnosis and prognosis of ADPKD.In recent years,with the rapid development of molecular genetics,the research on personalized therapy of ADPKD has made breakthroughs.This paper mainly reviews the epidemiology,molecular genetic characteristics clinical diagnosis and treatment of ADPKD.

关 键 词：常染色体显性遗传多囊肾病 致病基因突变 基因检测 基因靶点药物 

分 类 号：R692[医药卫生—泌尿科学]