A BBS4 mutation causes autosomal dominant polycystic liver disease  

作　　者：Yalu Cui Wenping Xu Jinpei Liu Shuqing Liu Wei Huang Yihai Shi Xin Zhang Cuihua Lu Weifen Xie 

机构地区：[1]Department of Gastroenterology,Changzheng Hospital,Naval Medical University,Shanghai 200003,China [2]Department of Gastroenterology,Gongli Hospital of Shanghai Pudong New Area,Shanghai 200135,China [3]Department of Gastroenterology,Affiliated Hospital of Nantong University,Nantong University,Nantong,Jiangsu 226001,China

出　　处：《Genes & Diseases》2024年第1期72-75,共4页基因与疾病（英文）

基　　金：supported by the Medical Discipine Construction Project of Pudong Health Committee of Shanghai(No.PWYgf2021-08 to S.Y.H);the National Natural Science Foundation of China(No.82030021 to W.F.X.,82070624 to C.H.L.,and 82000581 to J.P.L.)a;the Deep Blue Talent Project of Naval Medical University to W.P.X.

摘　　要：Autosomal dominant polycystic liver disease(ADPLD)refers to a condition characterized by the presence of numerous cholangiocytes-lined and fluid-filled cysts in the liver and the absence of polycystic kidney disease.1 Although patients with ADPLD may be asymptomatic,some patients suffer from abdominal pain,gastroesophageal reflux,and nausea,because of hepatomegaly.

关 键 词：LIVER POLYCYSTIC PATIENTS 

分 类 号：R575[医药卫生—消化系统]