Department of Surgery, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Clin Pharmacol Ther. 2013 Jan;93(1):86-97. doi: 10.1038/clpt.2012.183. Epub 2012 Nov 14.
Cystic fibrosis is a complex disease entity that presents considerable lifelong challenges. Implementation of medical and surgical treatment options involves multisystem interventions to prevent and treat lung and gastrointestinal manifestations of cystic fibrosis and associated comorbidities. From birth through adulthood, cystic fibrosis care entails a longitudinal regimen aimed at achieving relief of disease symptoms and enhanced life expectancy. With increased knowledge of the molecular behavior of the cystic fibrosis transmembrane conductance regulator (CFTR) in health and disease, clinical practice has been enriched by the prospect of novel strategies, including mutation-specific drug and gene therapy targeting restoration of corrupted transepithelial ion transport. Emerging paradigms of comprehensive care increasingly enable personalized solutions to address the root cause of disease-transforming management options for individuals with cystic fibrosis.
囊性纤维化是一种复杂的疾病实体,会带来相当多的终身挑战。实施医疗和手术治疗方案涉及多系统干预,以预防和治疗囊性纤维化的肺部和胃肠道表现以及相关的合并症。从出生到成年,囊性纤维化的护理需要一个纵向的治疗方案,旨在缓解疾病症状和提高预期寿命。随着对囊性纤维化跨膜电导调节因子 (CFTR) 在健康和疾病中的分子行为的了解不断增加,新的策略,包括针对纠正受损的跨上皮离子转运的突变特异性药物和基因治疗,丰富了临床实践。综合护理的新兴范例越来越能够提供个性化的解决方案,以解决疾病的根本原因,为囊性纤维化患者提供改变管理选择的机会。