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Cystic fibrosis transmembrane conductance regulator functional evaluations in a G542X+/-IVS8Tn:T7/9 patient with acute recurrent pancreatitis

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World Journal of Clinical Cases 2019年第22期7卷 3757-3764页

作者： 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 Department of Medicine General Pathology DivisionCystic Fibrosis Translational Research Laboratory“D.Lissandrini”University of VeronaVerona 37134Italy Cystic Fibrosis Center Azienda Ospedaliera Universitaria Integrata VeronaVerona 37126Italy Endoscopic Surgery Unit Azienda Ospedaliera Universitaria Integrata VeronaVerona 37126Italy Department of Medicine Pancreas CenterUniversity of VeronaVerona 37134Italy Department of Neurosciences Biomedicine and Movement SciencesPhysiology Section UniversityVerona 37126Italy Gastroenterology and Hepatology Erasmus University Medical CenterRotterdam 3015Netherlands

BACKGROUND Acute recurrent pancreatitis(ARP)is characterized by episodes of acute pancreatitis in an otherwise normal *** no cause of ARP is identifiable,the diagnosis of"idiopathic"ARP is *** 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 *** SUMMARY In non-classical CF or CFTR-related disorders,CFTR functional tests can help to ensure a proper *** 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 *** CFTR genotype was G542X+/-with IVS8Tn:T7/9 *** sweat(Cl-)values were *** current measurements were performed according to the European Cystic Fibrosis Society Standardized Operating *** nasal surgery for deviated septum did not allow for nasal potential difference *** function and sputum cultures were normal;azoospermia was *** divisum was excluded by imaging but hypoplasia of the left hepatic lobe was *** 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 *** Combination of innovative CFTR functional assays might support a controversial diagnosis when CFTR-related disorders and/or non-classical CF are suspected.

关键词： Recurrent acute pancreatitis Cystic fibrosis Cystic fibrosis transmembraneconductance regulator function Intestinal current Organoids Sweat test Controversialdiagnosis Case report

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