| ISSN |
2307-8960 (online) |
| Open Access |
This article 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 NonCommercial (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) 2021. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Gastroenterology & Hepatology |
| Manuscript Type |
Case Report |
| Article Title |
Progressive familial intrahepatic cholestasis — farnesoid X receptor deficiency due to NR1H4 mutation: A case report
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Piotr Czubkowski, Richard J Thompson, Irena Jankowska, A S Knisely, Milton Finegold, Pamela Parsons, Joanna Cielecka-Kuszyk, Sandra Strautnieks, Joanna Pawlowska and Laura N Bull |
| ORCID |
|
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| National Institutes of Health |
R01DK094828 |
| National Human Genome Research Institute |
UM1 HG006493 |
| National Human Genome Research Institute |
U24 HG008956 |
|
| Corresponding Author |
Piotr Czubkowski, MD, PhD, Associate Professor, Department Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw 04-730, Poland. p.czubkowski@ipczd.pl |
| Key Words |
Neonatal cholestsis; Progressive familial intrahepatic cholestasis; Bile salt export pump; Liver transplantation; Alpha-fetoprotein; Case report |
| Core Tip |
Despite the central role farnesoid X receptor (FXR) plays in bile acid metabolism, only a few children with cholestasis and biallelic FXR deficiency have been reported, and that only recently. Using banked DNA from patients without previous successful genetic diagnosis, we have identified a child with a homozygous mutation predicted to truncate FXR prematurely. We describe his disease course before and after liver transplantation, accompanied by immunohistochemical studies. This report adds meaningfully to the available information regarding disease course and outcomes in patients with severe FXR deficiency. It highlights biochemical findings that may be characteristic of FXR deficiency. |
| Publish Date |
2021-05-11 11:07 |
| Citation |
Czubkowski P, Thompson RJ, Jankowska I, Knisely AS, Finegold M, Parsons P, Cielecka-Kuszyk J, Strautnieks S, Pawlowska J, Bull LN. Progressive familial intrahepatic cholestasis — farnesoid X receptor deficiency due to NR1H4 mutation: A case report. World J Clin Cases 2021; 9(15): 3631-3636 |
| URL |
https://www.wjgnet.com/2307-8960/full/v9/i15/3631.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v9.i15.3631 |
