Published online Nov 26, 2019. doi: 10.12998/wjcc.v7.i22.3757
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
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.
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.
Combination of innovative CFTR functional assays might support a controversial diagnosis when CFTR-related disorders and/or non-classical CF are suspected.
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.