多囊肝病的相关基因、发病机制与临床治疗进展  

Gene complexies, pathogenesis and clinical management of polycystic liver disease

作　　者：汪佳儒 杨华瑜 毛一雷 Wang Jiaru;Yang Huayu;Mao Yilei(Department of Liver Surgery,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院肝脏外科

出　　处：《腹部外科》2019年第6期459-464,共6页Journal of Abdominal Surgery

基　　金：中国医学科学院医学与健康科技创新工程(2016-12M-1-001)

摘　　要：多囊肝病(polycystic liver disease,PLD)是一组罕见的遗传病,并与多个基因的突变相关,目前已经发现了9个与PLD相关的基因。大多数PLD病人无症状,但如果肝脏严重肿大,PLD病人会出现腹痛、早饱、食管反流等症状。对于有症状的病人,目前主张采用手术治疗,包括抽吸-硬化治疗、开窗术、肝切除术和肝移植术。大量研究证明,环磷酸腺苷(cAMP)和Ca2+水平对于囊肿的形成十分重要,目前已经有临床实验验证了生长抑素类似物和熊去氧胆酸的安全性和有效性。这种疾病的遗传机制也为基因编辑治疗提供了可能。该文主要针对PLD的相关基因、发病机制及临床治疗的进展进行综述。Polycystic liver disease(PLD)is a group of rare genetic disorders and is associated with mutations in several genes,and nine genes associated with PLD have been identified.Most patients with polycystic liver disease are asymptomatic,but if the liver is severely enlarged,people with polycystic liver disease will experience abdominal pain,early satiety,esophageal reflux and other symptoms.For symptomatic patients,surgical treatment,including aspiration-sclerotherapy,fenestration,liver resection,and liver transplantation,is currently advocated.Numerous studies have demonstrated that cyclic adenosine monophosphate(cAMP)and Ca2+levels are important for cyst formation,and there have been clinical experiments to verify the safety and efficacy of somatostatin analogues and ursodeoxycholic acid.The genetic mechanism of this disease also paves the way for gene editing therapy.This review focuses on the related genes,pathogenesis and progress in clinical treatment of PLD.

关 键 词：多囊肝病 发病机制 环磷酸腺苷 基因编辑治疗 

分 类 号：R657.3[医药卫生—外科学]