Update in cystic fibrosis 2006.
Update in cystic fibrosis 2006.
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DOI：
10.1164/rccm.200701-160up
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发表时间：
2007-04
影响因子：
24.7
通讯作者：
F. Accurso
中科院分区：
文献类型：
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作者：
F. Accurso
囊性纤维化（CF）是一种复杂的遗传性疾病，由编码囊性纤维化跨膜传导调节因子（CFTR）的基因异常引起。CFTR是一种存在于某些上皮细胞中的膜糖蛋白，以多种方式（包括直接氯离子通道活性）调节穿过细胞表面的离子通量。CF的临床表现包括对所涉及的主要器官（外分泌胰腺、肺、窦、肝、肠）的可变但通常严重的损伤以及一系列惊人的继发性并发症（包括多种微生物感染、多种形式的营养不良、低电解质血症、糖尿病、血管炎、鼻息肉和肺动脉高压）。慢性进行性肺病导致CF的大部分发病率和死亡率，因此是临床护理和研究的主要焦点。自20世纪30年代首次明确定义CF以来，CF的护理和研究并行发展（1）。在CF中看到的汗液电解质的奇怪升高，在20世纪50年代首次描述，导致了一个强大的诊断测试。综合护理中心紧随其后，并已发展到包括更新的质量改进和循证方法。1989年异常基因的发现和表征为模型系统和患者的研究开辟了许多途径。现在认识到CF气道疾病涉及气道表面液体、粘液清除、感染、炎症、修复和纤维化之间的复杂相互关系。
Cystic fibrosis (CF) is a complex inherited condition resulting from abnormalities in the gene that codes for the cystic fibrosis transmembrane conductance regulator (CFTR). CFTR, a membrane glycoprotein present in certain epithelia, contributes to regulation of ion flux across the cell surface in a number of ways, including direct chloride channel activity. The clinical picture of CF includes variable, but often severe, injury to the primary organs involved (exocrine pancreas, lung, sinus, liver, intestine) as well as a staggering array of secondary complications (including polymicrobial infection, malnutrition in many forms, hypoelectrolytemia, diabetes, vasculitis, nasal polyps, and pulmonary hypertension). Chronic, progressive lung disease results in most of the morbidity and mortality in CF and is therefore the main focus of clinical care and research. Care and research in CF have developed in parallel since the first clear definition of this condition in the 1930s (1). The curious elevation of sweat electrolytes seen in CF, first described in the 1950s, resulted in a robust diagnostic test. Comprehensive care centers soon followed and have evolved to include newer quality improvement and evidence-based approaches. The discovery and characterization of the abnormal gene in 1989 opened up many paths to research in model systems and in patients. It is now appreciated that CF airway disease involves intricate interrelationships among airway surface liquid, mucus clearance, infection, inflammation, repair, and fibrosis.