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World J Hepatol. Dec 27, 2021; 13(12): 2024-2038
Published online Dec 27, 2021. doi: 10.4254/wjh.v13.i12.2024
Newer variants of progressive familial intrahepatic cholestasis
Vignesh Vinayagamoorthy, Anshu Srivastava, Moinak Sen Sarma
Vignesh Vinayagamoorthy, Anshu Srivastava, Moinak Sen Sarma, Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, Uttar Pradesh, India
Author contributions: Vinayagamoorthy V contributed literature retrieval, primary draft of manuscript; Srivastava A contributed concept and design, literature retrieval, intellectual input and critical revision of manuscript; Sarma MS contributed intellectual input and critical revision of manuscript; all authors reviewed and approved the final manuscript as submitted.
Conflict-of-interest statement: The authors declare that they do not have any conflict of interest to disclose.
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/
Corresponding author: Anshu Srivastava, MD, Professor, Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, Uttar Pradesh, India. avanianshu@yahoo.com
Received: May 22, 2021
Peer-review started: May 22, 2021
First decision: July 27, 2021
Revised: August 19, 2021
Accepted: November 4, 0202
Article in press: November 4, 2021
Published online: December 27, 2021
Core Tip

Core Tip: Progressive familial intrahepatic cholestasis (PFIC) manifests with a varying spectrum of clinical features, with some variants progressing rapidly into end stage liver disease. Recently, newer variants of PFIC have been described including PFIC 4 due to tight junction protein 2 (TJP2) mutation, PFIC 5 due to NR1H4 mutation and MYO5B related cholestasis also sometimes known as PFIC 6. TJP2 related PFIC also has a risk of hepatocellular carcinoma. This article describes the pathogenesis and clinical features of the newer variants of PFIC.