Case Report
Copyright ©The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Oct 21, 2017; 23(39): 7191-7197
Published online Oct 21, 2017. doi: 10.3748/wjg.v23.i39.7191
Evidence from a familial case suggests maternal inheritance of primary biliary cholangitis
Saeam Shin, In Ho Moh, Young Sik Woo, Sung Won Jung, Jin Bae Kim, Ji Won Park, Ki Tae Suk, Hyoung Su Kim, Mineui Hong, Sang Hoon Park, Myung Seok Lee
Saeam Shin, Department of Laboratory Medicine, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul 07441, South Korea
In Ho Moh, Young Sik Woo, Sung Won Jung, Jin Bae Kim, Ji Won Park, Ki Tae Suk, Hyoung Su Kim, Sang Hoon Park, Myung Seok Lee, Division of Gastroenterology and Hepatology, Department of Internal Medicine, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul 07441, South Korea
Mineui Hong, Department of Pathology, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul 07441, South Korea
Author contributions: Shin S wrote the paper; Moh IH collected the patients’ clinical data; Woo YS, Jung SW, Kim JB, Park JW, Suk KT, Kim HS and Lee MS provided the resources and advice; Hong M performed pathologic diagnosis and reviewed the manuscript; Park SH designed the report and edited the manuscript.
Institutional review board statement: This study was approved by the Institutional Review Board at Kangnam Sacred Heart Hospital.
Informed consent statement: Informed consent was obtained from the patients for this case report.
Conflict-of-interest statement: The authors have no conflicts of interest to disclose.
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: Sang Hoon Park, MD, PhD, Professor, Division of Gastroenterology and Hepatology, Department of Internal Medicine, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, 1 Singil-ro, Yeongdeungpo-gu, Seoul 07441, South Korea. sanghoon@hallym.or.kr
Telephone: +82-2-8295493 Fax: +82-2-8464669
Received: July 26, 2017
Peer-review started: July 26, 2017
First decision: August 10, 2017
Revised: August 23, 2017
Accepted: September 5, 2017
Article in press: September 5, 2017
Published online: October 21, 2017
Processing time: 88 Days and 0.7 Hours
Core Tip

Core tip: The precise genetic mechanism underlying primary biliary cholangitis (PBC) has yet to be identified. Here, we describe a family with four siblings who were diagnosed with primary biliary cholangitis. This is the first case report to provide evidence of a maternal inheritance mechanism for PBC based on the identification of a non-PBC half-sibling. This report also highlights the occurrence of all clinical presentations of PBC in one family. Identification of a causal variant is important for a better understanding of the mechanism underlying PBC pathogenesis.