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:
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.
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
Case characteristics

A 62-year-old woman and a 57-year-old woman were both previously healthy, who were referred due to abnormal echographic presentation of the liver.

Differential diagnosis

Liver cirrhosis, metastases, microabscesses, and simple liver cysts.

Laboratory diagnosis

Proband A and B were diagnosed with chronic hepatitis B and HBeAg-negative chronic hepatitis B, respectively, by laboratory examinations of positive hepatitis B surface antigen (HBsAg), negative anti-hepatitis C virus and anti-human immuno-deficiency virus tests, and normal liver function tests.

Imaging diagnosis

Abdominal ultrasonography displayed intrahepatic diffuse lesions and magnetic resonance imaging (MRI) showed cystic lesions that shared no connection with the intra- and extra-hepatic bile duct system and were of normal size for von Meyenburg complexes (VMCs). A carcinoma in the right lobe of the liver was also found in proband A. No kidney cyst was seen in the imaging examinations of any family member.

Pathological diagnosis

Pathological diagnosis confirmed the diagnoses of hepatocellular carcinoma VMCs and chronic hepatitis B in proband A and of congenital hepatic fibrosis (CHF) and VMCs in proband B.


Proband A was given entecavir and complete surgical resection of the hepatocellular carcinoma lesion. Proband B did not receive any medication and was followed up regularly.

Related reports

In most of cases, VMCs are incidentally detected, focusing on the location of the disease (liver surface, extrahepatic), relative symptoms, mimicking metastatic disease or malignancy, and association with liver tumor.

Term explanation

PKHD1 gene is located on chromosome 6p12. It encodes a protein named fibrocystin/polyductin (FPC). FPC protein is involved in the maintenance of the normal tubular structure of intrahepatic bile duct epithelial cells. Mutation of PKHD1 may cause the structural and functional disorder of FPC, leading eventually to the development of renal and hepatic cysts. VMCs are benign neoplasms characterized by the disorderly arrangement of biliary epithelium, which form abnormal biliary ducts surrounded by ample fibrous stroma.

Experiences and lessons

The PKHD1 gene mutations were identified in two VMCs patients, providing new insights into the pathogenesis, diagnosis, and progression of the VMCs.