Sangiuolo Federica, D'Apice Maria Rosaria, Gambardella Stefano, Di Daniele Nicola, Novelli Giuseppe
Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Roma, Italy.
Pharmacogenomics. 2004 Oct;5(7):861-78. doi: 10.1517/14622416.5.7.861.
Cystic fibrosis (CF) is the most common autosomal recessive disorder in Caucasians, with a frequency of approximately 1 in 3000 live births. The mutated gene is a defective chloride channel in epithelial cells, named cystic fibrosis transmembrane conductance regulator (CFTR). Several different protocols for the scanning of the entire gene have aided molecular diagnosis and improved our understanding of the disorder's pathophysiology, but also showed the disease's complexity. Therefore, CF phenotype remains difficult to predict from CFTR mutation data alone: several studies have suggested that additional genes could modulate its clinical outcome. Gene replacement therapy is still far from being used in patients with CF, mostly due to the difficulties with targeting the appropriate cells. In this review, we summarize recent advances, both in the pharmacological and gene therapy field, aimed for the treatment of the disease.
囊性纤维化（CF）是白种人中最常见的常染色体隐性疾病，活产儿中的发病率约为1/3000。突变基因是上皮细胞中一种有缺陷的氯离子通道，称为囊性纤维化跨膜传导调节因子（CFTR）。几种用于扫描整个基因的不同方案有助于分子诊断并增进了我们对该疾病病理生理学的理解，但也显示出该疾病的复杂性。因此，仅根据CFTR突变数据很难预测CF表型：多项研究表明，其他基因可能会调节其临床结果。基因替代疗法距离应用于CF患者仍很遥远，主要是因为在靶向合适细胞方面存在困难。在本综述中，我们总结了旨在治疗该疾病的药理学和基因治疗领域的最新进展。
