常染色体显性遗传多囊肾病的研究进展  

Research progress in autosomal dominant polycystic kidney disease

作　　者：胡胜[1] 李东杰[1,2] 谭新骥 谷杰[1] 陈明泉[1] 张晓波[1,2] HU Sheng;LI Dongjie;TAN Xinji;GU Jie;CHEN Mingquan;ZHANG Xiaobo(International Medical Center;National Clinical Research Center for Geriatric Disorders,Xiangya Hospital,Central South University,Changsha 410008,China)

机构地区：[1]中南大学湘雅医院国际医疗部 [2]中南大学湘雅医院国家老年疾病临床医学研究中心,长沙410008

出　　处：《中南大学学报（医学版）》2019年第10期1179-1187,共9页Journal of Central South University ：Medical Science

基　　金：中南大学研究生自主探索创新项目(2018zzts897);中南大学研究生调查研究项目(2018dcyj071)~~

摘　　要：常染色体显性多囊肾病(autosomal dominant polycystic kidney disease,ADPKD)是一种常见的遗传性疾病,主要由多囊肾病(polycystic kidney disease,PKD)1/PKD2基因突变引起,以双肾多发、进行性增大的囊肿为主要表现,可同时伴有肾小球滤过功能减退、高血压、肝囊肿及脑动脉瘤,约45%的患者在60岁之前进展为终末期肾衰竭。ADPKD基因测序可用于临床特征不典型、没有阳性家族史、影像学表现不明显的患者。在ADPKD阳性的家系中,影像学检查是诊断ADPKD的主要手段。按身高调整后的肾总体积(height-adjusted total kidney volume,htTKV)和肾增长率是目前常用的监测ADPKD进展和判断预后的指标。ADPKD暂无终止其疾病进展的有效治疗措施。ADPKD治疗药物托伐普坦和伯舒替尼能延缓htTKV的增加,已在欧美等地区应用于临床。Autosomal dominant polycystic kidney disease(ADPKD)is a common hereditary disease,mainly caused by polycystic kidney disease 1/2(PKD1/2)gene mutation.Th e main manifestation is the formation of multiple progressive enlarged cysts in both kidneys,which can be accompanied by decreased glomerular filtration rate,hypertension,liver cyst and cerebral aneurysm.About 45%of patients will progress to end-stage renal failure before the age of 60.ADPKD gene sequencing can be chosen for suspicious patients with atypical clinical features,no positive family history,and inconspicuous imaging fi ndings.In the ADPKD positive families,imaging examination is the main means of diagnosing ADPKD.Height-adjusted total kidney volume(htTKV)and kidney growth rate are commonly used to monitor ADPKD disease progression and prognosis.Th ere is no effective treatment for ADPKD to stop its progress.Drugs such as tolvaptan and bosutinib can delay the renal disfunction and they have been applied to clinical therapy in Europe and America.

关 键 词：常染色体显性多囊肾病 囊肿 终末期肾衰竭 托伐普坦 伯舒替尼 

分 类 号：R69[医药卫生—泌尿科学]