Cystic fibrosis historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]

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Overview

In the late 1930s, cystic fibrosis was first recognized as a disease. In 1949, Lowe and colleagues suggested this theory that cystic fibrosis must be caused by a defect in a single gene. In 1959, the measurement of sweat electrolyte concentrations was established as the mainstay of diagnosing CF. In 1989, the CFTR gene was discovered first. In 1990, scientists successfully added cloned normal gene to cystic fibrosis cells which corrected the chloride transportion.

Historical Perspective

Discovery

  • In the late 1930s, cystic fibrosis was first recognized as a disease. This term was used to describe the characteristic cyst formation and fibrosis observed in the pancreas.[1][2][3]
  • In 1949, Lowe and colleagues suggested that cystic fibrosis must be caused by a defect in a single gene, based on autosomal recessive pattern of inheritance.
  • In 1959, the measurement of sweat electrolyte concentrations was established as the mainstay of diagnosing CF.
  • In the late 1980s, the first articles described the application of computed tomography in patients with cystic fibrosis.
  • In 1989, the CFTR gene was discovered.
  • Till 1996, approximately 500 different mutations for cystic fibrosis had been detected.[4]

Landmark Events in the Development of Treatment Strategies

  • In 1990, scientists successfully added cloned normal gene to cystic fibrosis cells in the laboratory, which corrected the chloride transportion. The gene therapy technique was then tried on a limited number of CF patients.[5]

References

  1. Pettit RS, Fellner C (July 2014). "CFTR Modulators for the Treatment of Cystic Fibrosis". P T. 39 (7): 500–11. PMC 4103577. PMID 25083129.
  2. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW (August 2008). "Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report". J. Pediatr. 153 (2): S4–S14. doi:10.1016/j.jpeds.2008.05.005. PMC 2810958. PMID 18639722.
  3. Rybacka A, Karmelita-Katulska K (2016). "The Role of Computed Tomography in Monitoring Patients with Cystic Fibrosis". Pol J Radiol. 81: 141–5. doi:10.12659/PJR.896051. PMC 4821342. PMID 27103945.
  4. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW (August 2008). "Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report". J. Pediatr. 153 (2): S4–S14. doi:10.1016/j.jpeds.2008.05.005. PMC 2810958. PMID 18639722.
  5. National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. Cystic fibrosis. [Updated 2011 Jan 31]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK22202/



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