Case Report
Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Feb 28, 2015; 21(8): 2550-2557
Published online Feb 28, 2015. doi: 10.3748/wjg.v21.i8.2550
Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review
Radana Kotalova, Petra Dusatkova, Ondrej Cinek, Lenka Dusatkova, Tomas Dedic, Tomas Seeman, Jan Lebl, Stepanka Pruhova
Radana Kotalova, Petra Dusatkova, Ondrej Cinek, Lenka Dusatkova, Tomas Dedic, Tomas Seeman, Jan Lebl, Stepanka Pruhova, Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, 15006 Prague, Czech Republic
Author contributions: Kotalova R and Dedic T provided the clinical care; Dusatkova P, Cinek O, Dusatkova L, Seeman T and Pruhova S performed the research and contributed to the manuscript preparation; Kotalova R, Dedic T and Lebl J wrote the paper; all co-authors review the paper prior to submission.
Supported by Grants No. NT11457 and No. NT11402 (to IGA MZ CR); and grant from Research project (Ministry of Health Care, Czech Republic) of the conceptual development of research organization, No. 00064203 (to FN Motol).
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/
Correspondence to: 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
Telephone: +420-224-432001 Fax: +420-224-432020
Received: July 7, 2014
Peer-review started: July 8, 2014
First decision: August 6, 2014
Revised: August 28, 2014
Accepted: December 1, 2014
Article in press: December 1, 2014
Published online: February 28, 2015
Processing time: 235 Days and 20 Hours
Core Tip

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.