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精准医学时代的囊性纤维化

Cystic fibrosis in the era of precision medicine.

机构信息

Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA.

Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA.

出版信息

Paediatr Respir Rev. 2018 Jan;25:64-72. doi: 10.1016/j.prrv.2017.03.001. Epub 2017 Mar 9.

Abstract

The treatment of people with cystic fibrosis (CF) has been transformed by the availability of drugs that target the basic chloride defect in the disease. The use of drugs that target specific molecular defects embodies the goals of precision medicine, which incorporate preventive and therapeutic strategies and takes into account differences among individuals. However, the entirety of CF care, from diagnosis to understanding the clinical phenotype and developing a therapeutic strategy, depends on taking into account individual characteristics to achieve optimal outcomes. Future therapies are likely to be even more individualized ushering in a new era of precision medicine.

摘要

针对疾病中基本氯离子缺陷的药物的出现,改变了囊性纤维化(CF)患者的治疗方法。针对特定分子缺陷的药物的使用体现了精准医学的目标,它包含预防和治疗策略,并考虑到个体之间的差异。然而,从诊断到了解临床表型和制定治疗策略的 CF 治疗的全过程,都取决于考虑个体特征以实现最佳结果。未来的治疗方法可能更加个体化,从而迎来精准医学的新时代。

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