Boboli H, Pirson J, Seghaye M C, Kempeneers C
Service de Pédiatrie, CHU Liège, Belgique.
Service de Pneumologie, CHR Liège, Belgique.
Rev Med Liege. 2020 May;75(5-6):410-414.
Cystic fibrosis is a genetic disorder responsible for the production of a defective transmembrane protein. In recent years, new protein modulators have been developed. They aim to treat the underlying cause of the disease. The results on the biomarkers of the function of the CFTR protein and on the clinical outcomes are very encouraging. However, there is an individual heterogeneity in the response to modulators within a same genotype. Furthermore, clinical trials focus on the most common mutations in the CFTR gene, in particular DF508. Intestinal organoids, a new model of ex vivo study, could offer a quick approach to increase access to effective treatment for all patients with cystic fibrosis regardless of their CFTR genotype. Organoids could enable personalized treatment of cystic fibrosis.
囊性纤维化是一种由缺陷性跨膜蛋白产生所导致的遗传性疾病。近年来，已开发出新型蛋白质调节剂，旨在治疗该疾病的根本病因。关于囊性纤维化跨膜传导调节因子（CFTR）蛋白功能生物标志物及临床结果的研究成果十分令人鼓舞。然而，同一基因型个体对调节剂的反应存在异质性。此外，临床试验聚焦于CFTR基因中最常见的突变，尤其是ΔF508。肠道类器官作为一种新型体外研究模型，可为所有囊性纤维化患者提供一种快速途径，使其更易获得有效治疗，而不论其CFTR基因型如何。类器官能够实现囊性纤维化的个性化治疗。
