Rectal organoid morphology analysis (ROMA) as a promising diagnostic tool in cystic fibrosis

• Published in: Thorax Vol. 76; no. 11; pp. 1146 - 1149
• Main Authors: Cuyx, Senne, Ramalho, Anabela Santo, Corthout, Nikky, Fieuws, Steffen, Fürstová, Eva, Arnauts, Kaline, Ferrante, Marc, Verfaillie, Catherine, Munck, Sebastian, Boon, Mieke, Proesmans, Marijke, Dupont, Lieven, De Boeck, Kris, Vermeulen, François
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd and British Thoracic Society 01.11.2021; BMJ Publishing Group LTD
• Subjects: Biopsy; Brief communication; Chloride; Cystic fibrosis; Cystic Fibrosis - diagnostic imaging; Cystic Fibrosis - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Diagnostic tests; Discriminant analysis; Discrimination; Humans; Morphology; Mutation; Organoids; Physiology; Belgium; cystic fibrosis

Diagnosing cystic fibrosis (CF) when sweat chloride is not in the CF range and less than 2 disease-causing CFTR mutations are found requires physiological CFTR assays, which are not always feasible or available. We developed a new physiological CFTR assay based on the morphological differences betwe...