囊性纤维化是一种以常染色体隐性方式遗传的遗传性疾病。它是由7号染色体上的囊性纤维化跨膜传导调节剂(CFTR)基因突变引起的,该突变导致对肺和胰腺等器官的细胞中氯离子和碳酸氢根离子的异常调节。CFTR蛋白在调节氯离子流动中起着至关重要的作用,它的缺失或故障会导致产生厚厚的粘液,影响几个器官。存在超过2000个鉴定的突变,其基于其功能障碍机制被分为七类。在这篇文章中,我们对定量CFTR功能所必需的各种测试进行了全面检查和整合.此外,我们就CFTR调节剂疗法的最新进展进行了全面的讨论,用于治疗囊性纤维化的关键方法,以及其在评估CFTR功能方面的相关性。
Cystic fibrosis is a genetic disorder inherited in an autosomal recessive manner. It is caused by a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene on chromosome 7, which leads to abnormal regulation of chloride and bicarbonate ions in cells that line organs like the lungs and pancreas. The CFTR protein plays a crucial role in regulating chloride ion flow, and its absence or malfunction causes the production of thick mucus that affects several organs. There are more than 2000 identified mutations that are classified into seven categories based on their dysfunction mechanisms. In this article, we have conducted a thorough examination and consolidation of the diverse array of tests essential for the quantification of CFTR functionality. Furthermore, we have engaged in a comprehensive discourse regarding the recent advancements in CFTR modulator therapy, a pivotal approach utilized for the management of cystic fibrosis, alongside its concomitant relevance in evaluating CFTR functionality.