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 t...
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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.
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