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 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) 2019. Published by Baishideng Publishing Group Inc. All rights reserved. |
Article Reprints |
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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 |
Medicine, Research & Experimental |
Manuscript Type |
Case Report |
Article Title |
Cystic fibrosis transmembrane conductance regulator functional evaluations in a G542X+/- IVS8Tn:T7/9 patient with acute recurrent pancreatitis
|
Manuscript Source |
Unsolicited Manuscript |
All Author List |
Sara Caldrer, Gabriella Bergamini, Angela Sandri, Silvia Vercellone, Luca Rodella, Angelo Cerofolini, Francesco Tomba, Filippo Catalano, Luca Frulloni, Mario Buffelli, Gloria Tridello, Hugo De Jonge, Baroukh Maurice Assael, Claudio Sorio and Paola Melotti |
ORCID |
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Funding Agency and Grant Number |
Funding Agency |
Grant Number |
Delegazione FFC di Palermo e di Vittoria Ragusa Catania 2 |
4/2013 |
Delegazione FFC di Treviso Montebelluna La Bottega delle Donne |
3/2014 |
Delegazione FFC di Belluno |
7/2016 |
Delegazione FFC di Taranto Massafra, Cosenza sud, della Valpolicella, Guadagnin SRL |
6/2018 |
Delegazione FFC di Tradate Gallarate |
13/2018 |
CFFT-USA |
ASSAEL08A0 |
Lega Italiana Fibrosi Cistica-Associazione Veneta ONLUS |
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Corresponding Author |
Paola Melotti, MD, PhD, Chief Doctor, Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata Verona, Piazzale Stefani, 1, Verona 37126, Italy. paola.melotti@aovr.veneto.it |
Key Words |
Recurrent acute pancreatitis; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator function; Intestinal current; Organoids; Sweat test |
Core Tip |
When the diagnosis of "idiopathic" recurrent acute pancreatitis is given, non-classical cystic fibrosis or disorders related to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are sometimes suspected when the phenotype is consistent with cystic fibrosis. Combination of innovative CFTR functional assays might support a controversial diagnosis, contributing to better definitions of these clinical entities. |
Publish Date |
2019-11-26 07:21 |
Citation |
Caldrer S, Bergamini G, Sandri A, Vercellone S, Rodella L, Cerofolini A, Tomba F, Catalano F, Frulloni L, Buffelli M, Tridello G, de Jonge H, Assael BM, Sorio C, Melotti P. Cystic fibrosis transmembrane conductance regulator functional evaluations in a G542X+/- IVS8Tn:T7/9 patient with acute recurrent pancreatitis. World J Clin Cases 2019; 7(22): 3757-3764 |
URL |
https://www.wjgnet.com/2307-8960/full/v7/i22/3757.htm |
DOI |
https://dx.doi.org/10.12998/wjcc.v7.i22.3757 |