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Publication Name World Journal of Gastroenterology
Manuscript ID 12424
Country/Territory Czech Republic
2014-07-08 08:55
Peer-Review Started
2014-07-08 16:27
To Make the First Decision
2014-08-06 17:20
Return for Revision
2014-08-12 17:57
2014-08-28 00:00
Second Decision
2014-11-10 16:28
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2014-12-01 13:44
Articles in Press
2014-12-01 14:04
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2015-02-07 11:13
Publish the Manuscript Online
2015-02-28 17:07
ISSN 1007-9327 (print) and 2219-2840 (online)
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/
Copyright © The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Gastroenterology and Hepatology
Manuscript Type Case Report
Article Title Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review
Manuscript Source Unsolicited Manuscript
All Author List Radana Kotalova, Petra Dusatkova, Ondrej Cinek, Lenka Dusatkova, Tomas Dedic, Tomas Seeman, Jan Lebl and Stepanka Pruhova
Funding Agency and Grant Number
Funding Agency Grant Number
Grant NT11457
Grant NT11402 (to IGA MZ CR)
Research project (Ministry of Health Care, Czech Republic) of the conceptual development of research organization 00064203 (to FN Motol)
Corresponding Author Jan Lebl, Professor, MD, PhD, Chief, Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, V Uvalu 84, 15006 Prague, Czech Republic. jan.lebl@lfmotol.cuni.cz
Key Words Hepatocyte nuclear factor 1-β; renal cysts and diabetes syndrome; Maturity-onset diabetes of the young; Biliary atresia; Portoenterostomy
Core Tip Hepatocyte nuclear factor 1-β (HNF1B) defects cause renal cysts and diabetes syndrome (renal cysts and diabetes; HNF1B-maturity-onset diabetes of the young), but little is known on liver in these patients. We succeeded to detect the most severe hepatic phenotype of an HNF1B gene deletion in a female neonate with cholestasis due to biliary atresia. She required portoenterostomy when 32-d old. She had bilateral renal cysts and pancreatic hypoplasia. A review of 12 published cases allows distinguishing three severity levels of liver impairment in HNF1B defects, ranging from neonatal cholestasis through adult-onset cholestasis to non-cholestatic liver disease. All have renal cysts and later-onset diabetes.
Publish Date 2015-02-28 17:07
Citation Kotalova R, Dusatkova P, Cinek O, Dusatkova L, Dedic T, Seeman T, Lebl J, Pruhova S. Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review. World J Gastroenterol 2015; 21(8): 2550-2557
Url http://www.wjgnet.com/1007-9327/full/v21/i8/2550.htm
DOI http://dx.doi.org/10.3748/wjg.v21.i8.2550
Full Article (PDF) WJG-21-2550.pdf
Full Article (Word) WJG-21-2550.doc
Manuscript File 12424-Review.doc
Answering Reviewers 12424-Answering reviewers.pdf
Copyright License Agreement 12424-Copyright assignment.pdf
Peer-review Report 12424-Peer review(s).pdf
Scientific Misconduct Check 12424-CrossCheck.jpg
Scientific Editor Work List 12424-Scientific editor work list.pdf