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 between rectal organoids from subjects with and without CF. In organoids from 167 subjects with and 22 without CF, two parameters derived from a semi-automated image analysis protocol (rectal organoid morphology analysis, ROMA) fully discriminated CF subjects with two disease-causing mutations from non-CF subjects (p<0.001). ROMA, feasible at all ages, can be centralised to improve standardisation.

Department for Neuroscience KU Leuven Leuven Flanders Belgium

Department of Chronic Diseases and Metabolism KU Leuven Leuven Flanders Belgium

Department of Chronic Diseases Metabolism and Ageing; Pneumology University Hospital of Leuven Leuven Flanders Belgium

Department of Development and Regeneration Stem Cell Institute Leuven KU Leuven Leuven Flanders Belgium

Department of Development and Regeneration Woman and Child Unit CF Research Lab KU Leuven Leuven Flanders Belgium

Department of Gastroenterology and Hepatology University Hospital of Leuven Leuven Flanders Belgium

Department of Pediatrics 2nd Faculty of Medicine Motol University Hospital Praha Czech Republic

Department of Pediatrics Pediatric Pulmonology University Hospital of Leuven Leuven Flanders Belgium

Department of Respiratory Diseases University Hospital of Leuven Leuven Flanders Belgium

Interuniversity Center for Biostatistics and Statistical Bioinformatics Hasselt University Hasselt Limburg Belgium

Interuniversity Center for Biostatistics and Statistical Bioinformatics KU Leuven Leuven Flanders Belgium

VIB Bio Imaging Core VIB KU Leuven Center for Brain and Disease Research Leuven Belgium

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