Publication Name	World Journal of Gastroenterology
Manuscript ID	40150
Country	China

Received	2018-06-07 00:39
Peer-Review Started	2018-06-07 08:57
To Make the First Decision	2018-06-21 01:06
Return for Revision	2018-06-29 12:26
Revised	2018-07-17 00:36
Second Decision	2018-07-31 12:50
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2018-08-01 04:27
Articles in Press	2018-08-01 04:27
Publication Fee Transferred
Edit the Manuscript by Language Editor	2018-08-13 22:54
Typeset the Manuscript	2018-09-17 01:10
Publish the Manuscript Online	2018-09-20 02:33

ISSN	1007-9327 (print) and 2219-2840 (online)
Open Access
Copyright	© The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
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Category	Gastroenterology & Hepatology
Manuscript Type	Case Report
Article Title	Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature
Manuscript Source	Unsolicited Manuscript
All Author List	Hui-Hui Wang, Fei-Qiu Wen, Dong-Ling Dai, Jian-She Wang, Jing Zhao, Kenneth DR Setchell, Lina Shi, Shao-Ming Zhou, Si-Xi Liu and Qing-Hua Yang
ORCID	Author(s) ORCID Number Hui-Hui Wang http://orcid.org/0000-0002-0469-1641 Fei-Qiu Wen http://orcid.org/0000-0002-3551-738X Dong-Ling Dai http://orcid.org/0000-0002-3002-4631 Jian-She Wang http://orcid.org/0000-0003-0823-586X Jing Zhao http://orcid.org/0000-0002-4982-9843 Kenneth DR Setchell http://orcid.org/0000-0002-2472-2476 Lina Shi http://orcid.org/0000-0002-7629-7301 Shao-Ming Zhou http://orcid.org/0000-0001-7269-4214 Si-Xi Liu http://orcid.org/0000-0003-1674-2685 Qing-Hua Yang http://orcid.org/0000-0002-7325-2968
Funding Agency and Grant Number	Funding Agency Grant Number Guangdong medical research project A2018550
Corresponding Author	Dong-Ling Dai, MD, PhD, Chief Doctor, Gastroenterology department, Shenzhen Children's Hospital, 7019 Yitian Road Futian District, Shenzhen 518036, Guangdong Province, China. daidong3529@sina.com
Key Words	Aldo-keto reductase family 1 member D1; Cholestasis; Congenital bile acid synthesis defect; Gene mutation
Core Tip	We report a case of an infant with primary 3-oxo-Δ4-steroid 5β-reductase deficiency with a novel missense mutation in the aldo-keto reductase family 1 member D1 (AKR1D1) gene. The patient was successfully treated by early adequate supplementation with chenodeoxycholic acid (CDCA). This case suggests that a novel compound heterozygous R307C mutation and loss of heterozygosity in the AKR1D1 gene play a pathogenic role in congenital bile acid synthesis defect type 2. Accurate diagnosis of the disease and early adequate supplementation with CDCA are vital for the amelioration of symptoms in clinical practice.
Publish Date	2018-09-20 02:33
Citation	Wang HH, Wen FQ, Dai DL, Wang JS, Zhao J, Setchell KD, Shi LN, Zhou SM, Liu SX, Yang QH. Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature. World J Gastroenterol 2018; 24(35): 4086-4092
URL	http://www.wjgnet.com/1007-9327/full/v24/i35/4086.htm
DOI	http://dx.doi.org/10.3748/wjg.v24.i35.4086

Full Article (PDF)	WJG-24-4086.pdf
CARE Checklist–2016	40150-CARE Checklist (2013).pdf
Manuscript File	40150-Review.docx
Answering Reviewers	40150-Answering reviewers.pdf
Audio Core Tip	40150-Audio core tip.m4a
Conflict-of-Interest Disclosure Form	40150-Conflict-of-interest statement.pdf
Copyright License Agreement	40150-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s)	40150-Grant application form(s).pdf
Signed Informed Consent Form(s) or Document(s)	40150-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate	40150-Language certificate.pdf
Supplementary Material	40150-Supplementary material.pdf
Peer-review Report	40150-Peer-review(s).pdf
Scientific Misconduct Check	40150-Scientific misconduct check.pdf
Scientific Editor Work List	40150-Scientific editor work list.pdf