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©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Feb 21, 2019; 25(7): 859-869
Published online Feb 21, 2019. doi: 10.3748/wjg.v25.i7.859
Published online Feb 21, 2019. doi: 10.3748/wjg.v25.i7.859
Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes
Mei-Hong Zhang, Jing-Yu Gong, Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai 201508, China
Kenneth DR Setchell, Department of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, United States
Jing Zhao, Yi Lu, Jian-She Wang, The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, Shanghai 201102, China
Jing Zhao, Yi Lu, Jian-She Wang, Department of Pediatrics, Shanghai Medical College of Fudan University, Shanghai 201102, China
Author contributions: Zhang MH, Setchell KD, and Zhao J contributed equally to preparation and revision of the manuscript; Gong JY and Lu Y contributed to collection of the clinical data; Setchell KD performed mass spectrometry analysis of patient samples; Wang JS contributed to the paper design, drafting, and revision; all authors contributed to the patient management and approved the final manuscript.
Supported by the National Natural Science Foundation of China , No. 81570468 and No. 81741056 ; and Jinshan Science and Technology Commission , No. 2014-3-07 .
Institutional review board statement: This study was approved by the institutional review board of Children’s Hospital of Fudan University.
Informed consent statement: Informed consent was obtained from each patient.
Conflict-of-interest statement: Setchell KD is a consultant to Retrophin San Diego, United States, and holds a minor equity in Asklepion Pharmaceuticals. The other authors declare no conflicts of interest.
Data sharing statement: No additional data are available.
Open-Access: This 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 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: Jian-She Wang, MD, PhD, Professor, The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, 399 Wanyuan Road, Shanghai 201102, China. jshwang@shmu.edu.cn
Telephone: +86-21-64931171 Fax: +86-21-64931901
Received: October 22, 2018
Peer-review started: October 22, 2018
First decision: December 12, 2018
Revised: January 11, 2019
Accepted: January 18, 2019
Article in press: January 18, 2019
Published online: February 21, 2019
Peer-review started: October 22, 2018
First decision: December 12, 2018
Revised: January 11, 2019
Accepted: January 18, 2019
Article in press: January 18, 2019
Published online: February 21, 2019
Core Tip
Core tip: Δ4-3-oxosteroid 5β-reductase (AKR1D1) deficiency presents as particularly severe and rapidly progressive cholestasis. Treatment with oral primary bile acid has been shown to be effective in normalizing liver function, circumventing the only alternative treatment of liver transplantation. The primary bile acid cholic acid is an approved drug for treating this genetic defect but is not available in China and many other countries. Here we report on the use of the alternative primary bile acid, chenodeoxycholic acid, in the largest cohort of patients with AKR1D1 deficiency studied to date, showing beneficial effects in a personalized regimen approach.