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Publication Name World Journal of Gastroenterology
Manuscript ID 51702
Country/Territory Denmark
Category Gastroenterology & Hepatology
Manuscript Type Case Report
Article Title New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report
Manuscript Source Invited Manuscript
All Author List Chun-Shan Wei, Naja Becher, Jenny Blechingberg Friis, Peter Ott, Ida Vogel and Henning Grønbæk
Funding Agency and Grant Number
Corresponding Author Henning Grønbæk, MD, PhD, Professor, Department of Clinical Medicine - Department of Hepatology and Gastroenterology, Aarhus University Hospital, 99 Palle Juul-Jensens Boulevard, Entrance C, Level 1, C116, Aarhus N DK-8200, Denmark. henngroe@rm.dk
Key Words Progressive familial intrahepatic cholestasis; Tight junction protein 2; Genetic variants; Liver cirrhosis; Liver cancer; Case report
Core Tip We report a family with progressive familiar intrahepatic cholestasis type-4 (PFIC4) with a novel variant in the tight junction protein-2 gene. The five homozygous children have highly variable expression of PFIC4. Two brothers presented with cirrhosis, portal hypertension and hepatocellular carcinoma at ages 19 and 36. Two other homozygous brothers and a sister (age 19-23) have elevated liver enzymes without cirrhosis. Furthermore, five sisters had severe and mild intrahepatic cholestasis of pregnancy and carry the tight junction protein-2 variant in homozygous and heterozygous states, respectively. Close monitoring for cirrhosis and hepatocellular carcinoma development is warranted in PFIC4 syndrome.
Citation Wei CS, Becher N, Friis JB, Ott P, Vogel I, Grønbæk H. New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report. World J Gastroenterol 2020; 26(5): 550-561
Received
2019-11-18 10:06
Peer-Review Started
2019-11-18 10:07
To Make the First Decision
Return for Revision
2019-12-23 14:34
Revised
2020-01-12 17:04
Second Decision
2020-01-18 08:34
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2020-01-18 18:45
Articles in Press
2020-01-18 18:45
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2020-02-05 05:51
ISSN 1007-9327 (print) and 2219-2840 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (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/
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