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

作者机构：Department of GastroenterologyChangzheng HospitalNaval Medical UniversityShanghai 200003China Department of GastroenterologyGongli Hospital of Shanghai Pudong New AreaShanghai 200135China Department of GastroenterologyAffiliated Hospital of Nantong UniversityNantong UniversityNantongJiangsu 226001China 

出 版 物：《Genes & Diseases》 (基因与疾病（英文）)

年 卷 期：2024年第11卷第1期

页      面：72-75页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

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 

主　　题：liver polycystic patients 

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.