囊性纤维化治疗的研究进展

囊性纤维化病(CF)是一种致命的常染色体隐性疾病,由囊性纤维化跨膜转录调节因子(CFTR)突变引起。这一突变导致CFTR功能不全,从而导致肺功能等严重损伤。在CF患者的气管中可以观察到氯离子分泌减少,盐吸收增加,氯离子分泌降低可能是CFTR损伤直接导致的,然而,盐吸收的增多可能是因CFTR损伤对钠离子通道限制引起的。

The Progress of CF Treatment Strategies

Cystic fibrosis(CF)is a common lethal genetic disease,which caused by impaired function of the cystic fibrosis transmembrane conductance regulator(CFTR).These mutations caused inadequate functing of CFTR,which in turn leads to the severe disruption of lung function.In the CF airway,decreased chloride secretion appears to be a direct consequence of defective CFTR.However,the increased salt absorption is believed to result from the failure of CFTR to the restrict salt absorption through a sodium channel named the epithelial Na+ channel.