Cystic fibrosis.
Cystic fibrosis.
复制标题
DOI：
10.1038/nrdp.2015.10
复制
发表时间：
2015-05-14
期刊：
影响因子：
--
通讯作者：
Bush A
中科院分区：
文献类型：
--
作者：
Ratjen F;Bell SC;Rowe SM;Goss CH;Quittner AL;Bush A
囊性纤维化是由囊性纤维化跨膜传导调节因子（CFTR）基因突变引起的常染色体隐性单基因疾病。这种基因缺陷在25年前首次被描述，从那时起，我们在理解CFTR突变如何导致疾病以及如何在治疗上解决这一问题方面取得了很大进展。CFTR是跨膜蛋白，其跨上皮细胞表面转运离子。CFTR功能障碍影响许多器官;然而，肺部疾病是囊性纤维化患者中绝大多数发病率和死亡率的原因。产前诊断、新生儿筛查和新的治疗方法正在改变这一疾病的发病率和流行率。直到最近，囊性纤维化治疗的标准治疗集中在预防和治疗疾病的并发症;现在，直接针对离子通道异常的新治疗策略正在变得可用，并且评估这些治疗如何影响疾病进展和患者的生活质量将非常重要。在本书中，我们总结了当前的知识，并展望了囊性纤维化的临床护理和研究在不久的将来将如何受到新知识和治疗方案的影响。
Cystic fibrosis is an autosomal-recessive, monogenetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The gene defect was first described 25 years ago and much progress has been made since then in our understanding on how CFTR mutations cause disease and how this can be addressed therapeutically. CFTR is a transmembrane protein that transports ions across the surface of epithelial cells. CFTR dysfunction affects many organs; however, lung disease is responsible for the vast majority of morbidity and mortality in patients with cystic fibrosis. Prenatal diagnostics, newborn screening and new treatment algorithms are changing the incidence and prevalence of the disease. Until recently, the standard of care in cystic fibrosis treatment focused on preventing and treating complications of the disease; now, novel treatment strategies targeting the ion channel abnormality directly are becoming available and it will be important to evaluate how these treatments affect disease progression and quality of life of patients. In this Primer, we summarize the current knowledge and provide an outlook on how cystic fibrosis clinical care and research will be affected by new knowledge and therapeutic options in the near future.
登录
查看更多内容
影响因子：
10
作者：
Amin, Reshma;Subbarao, Padmaja;Ratjen, Felix
通讯作者：
Ratjen, Felix
DOI：
10.1085/jgp.200709781
发表时间：
2007-12
期刊：
The Journal of general physiology
影响因子：
--
作者：
Adebamiro A;Cheng Y;Rao US;Danahay H;Bridges RJ
通讯作者：
Bridges RJ
DOI：
10.1164/rccm.201404-0670oc
发表时间：
2014-08-15
影响因子：
24.7
作者：
Birket, Susan E.;Chu, Kengyeh K.;Rowe, Steven M.
通讯作者：
Rowe, Steven M.
影响因子：
24.5
作者：
Blondeau, K.;Dupont, L. J.;Sifrim, D.
通讯作者：
Sifrim, D.
影响因子：
5.4
作者：
Boyle, Michael P.;Sabadosa, Kathryn A.;Schechter, Michael S.
通讯作者：
Schechter, Michael S.