从咸吻传说到基因发现:囊性纤维化的命名与诊断  

Naming and diagnosis of cystic fibrosis:from the legend of"salty kiss"to genetic discovery

作　　者：王聪[1] 唐文佩[1] Wang Cong;Tang Wenpei(School of Health Humanities,Peking University,Beijing 100191,China)

机构地区：[1]北京大学医学人文学院,北京100191

出　　处：《中华围产医学杂志》2025年第3期262-264,F0003,共4页Chinese Journal of Perinatal Medicine

基　　金：国家社会科学基金(20&ZD224);北京大学医学部教育教学研究项目(2023YB25)。

摘　　要：囊性纤维化的历史可追溯到中世纪,咸味是识别其早期症状的一部分。20世纪30年代,美国学者多萝西·安德森等通过临床和病理学研究逐步揭示了疾病的特征和机制。1953年,汗液测试成为诊断囊性纤维化的重要工具。1989年,科学家们确定了CFTR基因及其变异与囊性纤维化的关系,引领了基因研究和治疗的重大进展。通过梳理囊性纤维化的历史和研究进展,我们见证了从古老传说到现代科学探索的转变。这一历程不仅展现了医学技术的进步,也反映了人类对疾病认知的不断深化,彰显了科学研究在改善人类健康方面的巨大潜力。The history of cystic fibrosis(CF)can be traced back to the Middle Ages when a salty taste was recognized as an early symptom.In the 1930s,Dorothy Anderson gradually revealed the characteristics and mechanisms of CF through clinical and pathological studies.In 1953,the sweat test became an important tool for diagnosing CF.In 1989,scientists identified the CFTR genes and their association with CF,leading to significant advancement in genetic research and treatment of CF.By tracing the history and research progress of CF,we witness the transition from ancient legends to modern scientific exploration.This journey not only demonstrates the advancement of medical technology but also reflects the continuous deepening of human understanding of diseases,highlighting the immense potential of scientific research in improving human health.

关 键 词：囊性纤维化 CFTR基因 多萝西·安德森 汗液测试 

分 类 号：R-09[医药卫生]