CFTR 缺陷导致囊性纤维化
中文名称
通路描述
囊性纤维化跨膜传导调节因子 (CFTR) 是一种低电导率的氯离子选择性通道，介导人类呼吸道上皮细胞中氯离子的转运。氯离子在维持肺上皮分泌物稳态中起关键作用。CFTR 缺陷可导致囊性纤维化 (CF)，这是一种在白人中的常见全身性疾病，影响外分泌腺。CF 导致离子失衡，不仅影响肺部的分泌物清除，还影响胰腺、胃肠道和肝脏。该疾病的广泛表现包括慢性肺部疾病、外分泌胰腺功能不全、末段回肠阻塞、男性不育和咸味汗液。北美和西欧 CF 患者的平均生存期约为 40 岁。
英文描述
Defective CFTR causes cystic fibrosis Cystic fibrosis transmembrane conductance regulator (CFTR) is a low conductance chloride-selective channel that mediates the transport of chloride ions in human airway epithelial cells. Chloride ions plays a key role in maintaining homoeostasis of epithelial secretions in the lungs. Defects in CFTR can cause cystic fibrosis (CF; MIM:602421), a common generalised disorder in Caucasians affecting the exocrine glands. CF results in an ionic imbalance that impairs clearance of secretions, not only in the lung, but also in the pancreas, gastrointestinal tract and liver. Wide-ranging manifestations of the disease include chronic lung disease, exocrine pancreatic insufficiency, blockage of the terminal ileum, male infertility and salty sweat. The median survival of CF patients in North America and Western Europe is around 40 years (Davis 2006, Radlovic 2012).
所含基因
47 个基因