Publication Name	World Journal of Gastroenterology
Manuscript ID	12424
Country	Czech Republic

Received	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
Revised	2014-08-28 00:00
Second Decision	2014-11-10 16:28
Accepted by Journal Editor-in-Chief
Accepted by Executive 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/
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Category	Gastroenterology & 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