Department of Development and Regeneration, Woman and Child Unit, CF Research Lab, KU Leuven, Leuven, Flanders, Belgium.
Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Leuven, Flanders, Belgium.
Thorax. 2021 Nov;76(11):1146-1149. doi: 10.1136/thoraxjnl-2020-216368. Epub 2021 Apr 15.
Diagnosing cystic fibrosis (CF) when sweat chloride is not in the CF range and less than 2 disease-causing 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.
当汗液氯化物不在 CF 范围内且发现的致病突变少于 2 个时，需要进行生理 CFTR 检测，但这些检测并不总是可行或可用。我们开发了一种新的生理 CFTR 检测方法，该方法基于 CF 患者和非 CF 患者直肠类器官之间的形态差异。在来自 167 名 CF 患者和 22 名非 CF 患者的类器官中，从半自动化图像分析协议（直肠类器官形态分析，ROMA）中得出的两个参数能够完全区分出有两个致病突变的 CF 患者和非 CF 患者（p<0.001）。ROMA 适用于所有年龄段，可集中进行以提高标准化程度。
