Dora Angyal, Karina Kleinfelder, Fabiana Ciciriello, Tessa A Groeneweg, Giulia De Marchi, Nicolò de Pretis, Laura Bernardoni, Luca Rodella, Francesco Tomba, Paola De Angelis, Cecilia Surace, Emily Pintani, Federico Alghisi, Hugo R de Jonge, Paola Melotti, Claudio Sorio, Vincenzina Lucidi, Marcel J C Bijvelds, Luca Frulloni
BACKGROUND: Many affected by pancreatitis harbor rare variants of the cystic fibrosis (CF) gene, CFTR, which encodes an epithelial chloride/bicarbonate channel. We investigated CFTR function and the effect of CFTR modulator drugs in pancreatitis patients carrying CFTR variants. METHODS: Next-generation sequencing was performed to identify CFTR variants. Sweat tests and nasal potential difference (NPD) assays were performed to assess CFTR function in vivo. Intestinal current measurement (ICM) was performed on rectal biopsies...
March 10, 2024: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]