Turcios Nelson L
Saint Peter's University Hospital, New Brunswick, NJ 08901, USA.
J Clin Gastroenterol. 2005 Apr;39(4):307-17. doi: 10.1097/01.mcg.0000155140.63510.cd.
Cystic fibrosis (CF) is one of the most common inherited disorders of white populations. The isolation and cloning of the gene in CF that encodes the production of a transport protein that acts as an apical membrane chloride channel, termed cystic fibrosis transmembrane conductance regulator (CFTR), have improved our understanding of the disorder's pathophysiology and has aided diagnosis, but has also revealed the disease's complexity. Gene replacement therapy is still far from being used in patients with CF, mostly because of difficulties in targeting the appropriate cells. Life expectancy of patients with this disorder has greatly improved over past decades because of better symptomatic treatment strategies. This article summarizes advances in understanding and treatment of CF.
囊性纤维化(CF)是白种人群中最常见的遗传性疾病之一。编码一种作为顶端膜氯离子通道的转运蛋白(称为囊性纤维化跨膜传导调节因子,CFTR)的CF基因的分离和克隆,增进了我们对该疾病病理生理学的理解,有助于诊断,但也揭示了该疾病的复杂性。基因替代疗法距离应用于CF患者仍很遥远,主要是因为难以靶向合适的细胞。由于采用了更好的对症治疗策略,过去几十年来,这种疾病患者的预期寿命有了很大提高。本文总结了CF在认识和治疗方面的进展。