تقرير
Cystic fibrosis transmembrane conductance regulator functional evaluations in a G542X+/- IVS8Tn:T7/9 patient with acute recurrent pancreatitis.
| العنوان: | Cystic fibrosis transmembrane conductance regulator functional evaluations in a G542X+/- IVS8Tn:T7/9 patient with acute recurrent pancreatitis. |
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| المؤلفون: | Caldrer S; Department of Medicine, General Pathology Division, Cystic Fibrosis Translational Research Laboratory 'D. Lissandrini', University of Verona, Verona 37134, Italy., Bergamini G; Department of Medicine, General Pathology Division, Cystic Fibrosis Translational Research Laboratory 'D. Lissandrini', University of Verona, Verona 37134, Italy., Sandri A; Department of Medicine, General Pathology Division, Cystic Fibrosis Translational Research Laboratory 'D. Lissandrini', University of Verona, Verona 37134, Italy., Vercellone S; Department of Medicine, General Pathology Division, Cystic Fibrosis Translational Research Laboratory 'D. Lissandrini', University of Verona, Verona 37134, Italy., Rodella L; Endoscopic Surgery Unit, Azienda Ospedaliera Universitaria Integrata Verona, Verona 37126, Italy., Cerofolini A; Endoscopic Surgery Unit, Azienda Ospedaliera Universitaria Integrata Verona, Verona 37126, Italy., Tomba F; Endoscopic Surgery Unit, Azienda Ospedaliera Universitaria Integrata Verona, Verona 37126, Italy., Catalano F; Endoscopic Surgery Unit, Azienda Ospedaliera Universitaria Integrata Verona, Verona 37126, Italy., Frulloni L; Department of Medicine, Pancreas Center, University of Verona, Verona 37134, Italy., Buffelli M; Department of Neurosciences, Biomedicine and Movement Sciences, Physiology Section University, Verona 37126, Italy., Tridello G; Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata Verona, Verona 37126, Italy., de Jonge H; Gastroenterology and Hepatology, Erasmus University Medical Center, Rotterdam 3015, Netherlands., Assael BM; Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata Verona, Verona 37126, Italy., Sorio C; Department of Medicine, General Pathology Division, Cystic Fibrosis Translational Research Laboratory 'D. Lissandrini', University of Verona, Verona 37134, Italy., Melotti P; Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata Verona, Verona 37126, Italy. paola.melotti@aovr.veneto.it. |
| المصدر: | World journal of clinical cases [World J Clin Cases] 2019 Nov 26; Vol. 7 (22), pp. 3757-3764. |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Baishideng Publishing Group Country of Publication: United States NLM ID: 101618806 Publication Model: Print Cited Medium: Print ISSN: 2307-8960 (Print) Linking ISSN: 23078960 NLM ISO Abbreviation: World J Clin Cases Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Publication: 2014-: Pleasanton, CA : Baishideng Publishing Group Original Publication: Hong Kong, China : Baishideng Publishing Group Co., Limited, [2013]- |
| مستخلص: | Background: Acute recurrent pancreatitis (ARP) is characterized by episodes of acute pancreatitis in an otherwise normal gland. When no cause of ARP is identifiable, the diagnosis of "idiopathic" ARP is given. Mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene increase the risk of ARP by 3- to 4-times compared to the general population, while cystic fibrosis (CF) patients present with a 40- to 80-times higher risk of developing pancreatitis. Case Summary: In non-classical CF or CFTR-related disorders, CFTR functional tests can help to ensure a proper diagnosis. We applied an individualized combination of standardized and new CFTR functional bioassays for a patient referred to the Verona CF Center for evaluation after several episodes of acute pancreatitis. The CFTR genotype was G542X+/- with IVS8Tn:T7/9 polymorphism. The sweat (Cl - ) values were borderline. Intestinal current measurements were performed according to the European Cystic Fibrosis Society Standardized Operating Procedure. Recent nasal surgery for deviated septum did not allow for nasal potential difference measurements. Lung function and sputum cultures were normal; azoospermia was excluded. Pancreas divisum was excluded by imaging but hypoplasia of the left hepatic lobe was detected. Innovative tests applied in this case include sweat rate measurement by image analysis, CFTR function in monocytes evaluated using a membrane potential-sensitive fluorescent probe, and the intestinal organoids forskolin-induced swelling assay. Conclusion: Combination of innovative CFTR functional assays might support a controversial diagnosis when CFTR-related disorders and/or non-classical CF are suspected. Competing Interests: Conflict-of-interest statement: The authors declare that they have no conflicts of interest. (©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.) |
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| فهرسة مساهمة: | Keywords: Case report; Controversial diagnosis; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator function; Intestinal current; Organoids; Recurrent acute pancreatitis; Sweat test |
| تواريخ الأحداث: | Date Created: 20191205 Latest Revision: 20200928 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC6887611 |
| DOI: | 10.12998/wjcc.v7.i22.3757 |
| PMID: | 31799301 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 2307-8960 |
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| DOI: | 10.12998/wjcc.v7.i22.3757 |