Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 26, 2019; 7(22): 3757-3764
Published online Nov 26, 2019. doi: 10.12998/wjcc.v7.i22.3757
Cystic fibrosis transmembrane conductance regulator functional evaluations in a G542X+/- IVS8Tn:T7/9 patient with acute recurrent pancreatitis
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, Paola Melotti
Sara Caldrer, Gabriella Bergamini, Angela Sandri, Silvia Vercellone, Claudio Sorio, Department of Medicine, General Pathology Division, Cystic Fibrosis Translational Research Laboratory “D. Lissandrini”, University of Verona, Verona 37134, Italy
Gabriella Bergamini, Angela Sandri, Gloria Tridello, Baroukh Maurice Assael, Paola Melotti, Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata Verona, Verona 37126, Italy
Luca Rodella, Angelo Cerofolini, Francesco Tomba, Filippo Catalano, Endoscopic Surgery Unit, Azienda Ospedaliera Universitaria Integrata Verona, Verona 37126, Italy
Luca Frulloni, Department of Medicine, Pancreas Center, University of Verona, Verona 37134, Italy
Mario Buffelli, Department of Neurosciences, Biomedicine and Movement Sciences, Physiology Section University, Verona 37126, Italy
Hugo de Jonge, Gastroenterology and Hepatology, Erasmus University Medical Center, Rotterdam 3015, Netherlands
Author contributions: Caldrer S, Bergamini G, Sandri A and Vercellone S performed the experiments; Rodella L, Cerofolini A, Tomba F, Catalano F and Frulloni L analyzed the data; Tridello G performed the statistical analysis; de Jonge H supervised the study and acted as consultant for organoids; Assael BM contributed to the design of the work and to the manuscript’s drafting, critically discussing the data; Melotti P collected the patient’s data and coordinated the study; Caldrer S performed the organoids experiments and drafted the manuscript; Sorio C participated in the data analysis and manuscript preparation; All the authors approved the manuscript.
Supported by Italian CF Research Foundation with the contributions of Delegazione FFC di Palermo e di Vittoria Ragusa Catania 2, No. FFC grants No. 4/2013; Delegazione FFC di Treviso Montebelluna La Bottega delle Donne, No. 3/2014; Delegazione FFC di Belluno, No. 7/2016; Delegazione FFC di Taranto Massafra, Cosenza sud, della Valpolicella, Guadagnin SRL, No. 6/2018; Delegazione FFC di Tradate Gallarate, No. 13/2018; and CFFT-USA and Lega Italiana Fibrosi Cistica-Associazione Veneta ONLUS.
Informed consent statement: Consent was obtained from relatives of the patient for publication of this report and any accompanying images. In addition, written informed consent was obtained from the volunteers (used as controls) as approved by the local Ethical Committee of Comitato Etico per la Sperimentazione Clinica delle Province di Verona e Rovigo (Project Nos. 305CESC, 1606, and 06-Clinica delle EVOC).
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Data sharing statement: The datasets used and/or analyzed during the current study are available from the Corresponding Author on reasonable request.
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/
Corresponding author: Paola Melotti, MD, PhD, Chief Doctor, Medical Director, Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata Verona, Verona 37126, Italy. paola.melotti@aovr.veneto.it
Telephone: +39-45-8123741 Fax: +39-45-8122042
Received: May 18, 2019
Peer-review started: May 23, 2019
First decision: August 1, 2019
Revised: September 16, 2019
Accepted: October 15, 2019
Article in press: October 15, 2019
Published online: November 26, 2019
Processing time: 192 Days and 20.5 Hours
Core Tip

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.