Case Report
Copyright ©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 6, 2018; 6(9): 296-300
Published online Sep 6, 2018. doi: 10.12998/wjcc.v6.i9.296
Polycystic kidney and hepatic disease 1 gene mutations in von Meyenburg complexes: Case report
Su Lin, Tian-Yu Shang, Ming-Fang Wang, Jian Lin, Xiao-Jian Ye, Da-Wu Zeng, Jiao-Feng Huang, Nan-Wen Zhang, Yi-Long Wu, Yue-Yong Zhu
Su Lin, Tian-Yu Shang, Ming-Fang Wang, Da-Wu Zeng, Jiao-Feng Huang, Yi-Long Wu, Yue-Yong Zhu, Liver Research Center, the First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, Fujian Province, China
Jian Lin, Department of Hepato-Biliary-Pancreatic Surgery, the First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, Fujian Province, China
Xiao-Jian Ye, Department of Ultrasound, the First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, Fujian Province, China
Nan-Wen Zhang, Department of Pharmacology, School of Pharmacy, Fujian Medical University, Fuzhou 350005, Fujian Province, China
Author contributions: All authors designed the report and wrote the paper.
Supported by Pilot Project of Fujian Science and Technology Department, No. 2015Y0057; Fujian Medical Innovation Project, No. 2018-ZQN-54; and Science and Technology Project of Fujian Education Department, No. JAT160211.
Informed consent statement: Written informed consent was obtained from the probands and families for this study, and direct sequencing of PKHD1 was performed.
Conflict-of-interest statement: No potential conflicts of interest relevant to this article were reported.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Yue-Yong Zhu, MD, PhD, Professor, Liver Research Center, the First Affiliated Hospital, Fujian Medical University, Chazhong Road 20th, Taijiang District, Fuzhou 350005, Fujian Province, China. zhuyueyong@fjmu.edu.cn
Telephone: +86-591-87981660 Fax: +86-591-87981028
Received: March 10, 2018
Peer-review started: March 10, 2018
First decision: April 18, 2018
Revised: May 4, 2018
Accepted: June 7, 2018
Article in press: June 8, 2018
Published online: September 6, 2018
Processing time: 181 Days and 12.3 Hours
Core Tip

Core tip: Von Meyenburg complexes (VMCs) are a rare type of ductal plate malformation. Although generally benign, VMCs have been found to correlate with malignant diseases and progress towards adenocarcinomas. Mutations of the PKHD1 gene have been demonstrated to cause autosomal recessive polycystic kidney disease, a type of ductal plate malformation. In this study, mutations of the PKHD1 gene located in exon 28 and exon 32, respectively, were identified in two Chinese VMCs families, with four VMCs patients reported in total.