Cystic fibrosis historical perspective: Difference between revisions
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* In 1949, Lowe and colleagues suggested this theory that cystic fibrosis must be caused by a defect in a single gene. (based on autosomal recessive pattern of inheritance) | * In 1949, Lowe and colleagues suggested this theory 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 1959, the measurement of sweat electrolyte concentrations was established as the mainstay of diagnosing CF. | ||
* In the 1980s, The first articles described the application of computed tomography in patients with cystic fibrosis. | * 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 first. | * In 1989, the CFTR gene was discovered first. | ||
* 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.<ref>National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK22183/</ref><ref name="pmid25083129">{{cite journal |vauthors=Pettit RS, Fellner C |title=CFTR Modulators for the Treatment of Cystic Fibrosis |journal=P T |volume=39 |issue=7 |pages=500–11 |date=July 2014 |pmid=25083129 |pmc=4103577 |doi= |url= |author=}}</ref><ref name="pmid186397222">{{cite journal |vauthors=Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW |title=Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report |journal=J. Pediatr. |volume=153 |issue=2 |pages=S4–S14 |date=August 2008 |pmid=18639722 |pmc=2810958 |doi=10.1016/j.jpeds.2008.05.005 |url=}}</ref><ref name="pmid27103945">{{cite journal |vauthors=Rybacka A, Karmelita-Katulska K |title=The Role of Computed Tomography in Monitoring Patients with Cystic Fibrosis |journal=Pol J Radiol |volume=81 |issue= |pages=141–5 |date=2016 |pmid=27103945 |pmc=4821342 |doi=10.12659/PJR.896051 |url=}}</ref> | * 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.<ref>National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK22183/</ref><ref name="pmid25083129">{{cite journal |vauthors=Pettit RS, Fellner C |title=CFTR Modulators for the Treatment of Cystic Fibrosis |journal=P T |volume=39 |issue=7 |pages=500–11 |date=July 2014 |pmid=25083129 |pmc=4103577 |doi= |url= |author=}}</ref><ref name="pmid186397222">{{cite journal |vauthors=Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW |title=Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report |journal=J. Pediatr. |volume=153 |issue=2 |pages=S4–S14 |date=August 2008 |pmid=18639722 |pmc=2810958 |doi=10.1016/j.jpeds.2008.05.005 |url=}}</ref><ref name="pmid27103945">{{cite journal |vauthors=Rybacka A, Karmelita-Katulska K |title=The Role of Computed Tomography in Monitoring Patients with Cystic Fibrosis |journal=Pol J Radiol |volume=81 |issue= |pages=141–5 |date=2016 |pmid=27103945 |pmc=4821342 |doi=10.12659/PJR.896051 |url=}}</ref> | ||
Revision as of 17:01, 5 March 2018
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 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
- 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.
- In 1949, Lowe and colleagues suggested this theory 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 first.
- 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.[1][2][3][4]
- In 1996, approximately 500 mutations for cystic fibrosis had been detected.[5]
References
- ↑ National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK22183/
- ↑ Pettit RS, Fellner C (July 2014). "CFTR Modulators for the Treatment of Cystic Fibrosis". P T. 39 (7): 500–11. PMC 4103577. PMID 25083129.
- ↑ 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.
- ↑ 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.
- ↑ 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.