Systematic Review
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Hepatol. May 27, 2019; 11(5): 450-463
Published online May 27, 2019. doi: 10.4254/wjh.v11.i5.450
Expanding etiology of progressive familial intrahepatic cholestasis
Sarah AF Henkel, Judy H Squires, Mary Ayers, Armando Ganoza, Patrick Mckiernan, James E Squires
Sarah AF Henkel, Division of Gastroenterology, Hepatology, and Nutrition, Emory School of Medicine, Atlanta, GA 30322, United States
Judy H Squires, Department of Radiology, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA 15224, United States
Mary Ayers, Patrick Mckiernan, James E Squires, Division of Gastroenterology, Hepatology, and Nutrition, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA 15224, United States
Armando Ganoza, Division of Pediatric Transplantation, Department of Surgery, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA 15224, United States
Author contributions: Henkel SAF and Squires JE contributed equally to the work; Henkel SAF drafted the initial manuscript; Squires JH, Ayers M and Ganoza A helped conceptualize, design, and carry out the review; 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.
PRISMA 2009 Checklist statement: The authors have read the PRISMA 2009 Checklist, and the manuscript was prepared and revised according to the PRISMA 2009 Checklist.
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/
Corresponding author: James E Squires, MD, MSc, Assistant Professor, Division of Gastroenterology, Hepatology, and Nutrition, UPMC Children’s Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, United States. james.squires2@chp.edu
Telephone: +1-412-6925180 Fax: +1-412-6927355
Received: March 12, 2019
Peer-review started: March 12, 2019
First decision: March 25, 2019
Revised: April 19, 2019
Accepted: April 26, 2019
Article in press: April 27, 2019
Published online: May 27, 2019
Core Tip

Core tip: Progressive familial intrahepatic cholestasis is a heterogeneous cohort of diseases that present both diagnostic and treatment challenges for clinicians. Significant advancement in the knowledge base related to the genetic underpinnings regulating bile acid transport physiology has enabled new diseases to be identified with a breadth of phenotypes from neonates to adults.