[Historical compilation of cystic fibrosis]

Gastroenterol Hepatol. 2016 Jan;39(1):36-42. doi: 10.1016/j.gastrohep.2015.04.012. Epub 2015 Jun 10.
[Article in Spanish]

Abstract

Cystic fibrosis is the most common life-shortening recessively inherited disorder in the Caucasian population. The genetic mutation that most frequently provokes cystic fibrosis (ΔF508) appeared at least 53,000years ago. For many centuries, the disease was thought to be related to witchcraft and the "evil eye" and it was only in 1938 that Dorothy H. Andersen characterized this disorder and suspected its genetic origin. The present article reviews the pathological discoveries and diagnostic and therapeutic advances made in the last 75 years. The review ends with some considerations for the future.

Keywords: Cystic fibrosis; Fibrosis quística; Gene therapy; Historia; History; Lung transplant; Prueba del sudor; Sweat test; Terapia génica; Trasplante pulmonar.

Publication types

  • Historical Article
  • Review

MeSH terms

  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / history*
  • Cystic Fibrosis / therapy*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • History, 20th Century
  • History, 21st Century
  • Humans

Substances

  • Cystic Fibrosis Transmembrane Conductance Regulator