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{{CMG}}
{{CMG}} {{AE}} {{SHH}}
{{Cystic fibrosis}}
{{Cystic fibrosis}}


==Overview==
==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)|CFTR gene]] was discovered first. In 1990, scientists successfully added [[Cloning|cloned]] normal [[gene]] to cystic fibrosis cells which corrected the [[chloride]] transportion.
==Historical Perspective==
==Historical Perspective==
[[Image:Dorothy Hansine Andersen.jpg|thumb|right|National Library of Medicine picture of [[Dorothy Hansine Andersen]]. Andersen first described cystic fibrosis of the pancreas.]]
The name ''cystic fibrosis'' refers to the characteristic 'fibrosis' (tissue scarring) of the biliary tract ("cystic" being a generic term for all that is related to the biliary vesicle and/or the bladder), first recognized in the 1930s.<ref name="andersen">Andersen DH. ''Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathological study.'' Am J Dis Child 1938; 56:344–399</ref> Formerly known as cystic fibrosis of the [[pancreas]], this entity has increasingly been labeled simply ''cystic fibrosis''.<ref name="pancreas">{{cite web| date = [[April 26]], [[2006]]| url =http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219700&blnShowBack=True&idContentType=767| title =Cystic Fibrosis; CF - Mucoviscidosis| publisher =[[Entrez]]| accessdate =2007-02-28}}</ref> Although the entire clinical spectrum of CF was not recognized until the 1930s, certain aspects of CF were identified much earlier. Indeed, literature from Germany and Switzerland in the 1700s warned "Wehe dem Kind, das beim Kuß auf die Stirn salzig schmekt, es ist verhext und muss bald sterben," which translates to "Woe is the child kissed on the brow who tastes salty, for he is cursed and soon must die," recognizing the association between the salt loss in CF and illness. [[Carl von Rokitansky]] described a case of fetal death with [[meconium peritonitis]], complication of meconium ileus associated with cystic fibrosis. Meconium ileus was first described in 1905 by [[Karl Landsteiner]].<ref>Busch R. ''On the history of cystic fibrosis.'' Acta Univ Carol [Med] (Praha). 1990;36(1-4):13-5. PMID 2130674</ref> In 1936, [[Guido Fanconi]] published a paper describing  a connection between celiac disease, cystic fibrosis of the pancreas, and [[bronchiectasis]].<ref>Fanconi G, Uehlinger E, Knauer.C. ''Das coeliakiesyndrom bei angeborener zysticher pankreasfibromatose und bronchiektasien.'' Wien Med Wschr 1936; 86:753–756.</ref>


In 1938, [[Dorothy Hansine Andersen]] published an article titled "''Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathological study''" in the American Journal of Diseases of Children. In her paper, she described the characteristic cystic fibrosis of the pancreas correlated it with the lung and intestinal disease prominent in CF.<ref name="andersen" /> She also first hypothesized that CF is a recessive disease and first used pancreatic enzyme replacement to treat affected children. In 1952, Paul di Sant' Agnese discovered abnormalities in sweat electrolytes; the sweat test was developed and improved over the next decade.<ref>Di Sant' Agnese PA, Darling RC, Perera GA, et al. ''Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas: clinical implications and relationship to the disease.'' Pediatrics 1953; 12:549–563.</ref>  
=== 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]].<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 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 (genetic algorithm)|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)|CFTR gene]] was discovered.
* Till 1996, approximately 500 different [[Mutation|mutations]] for cystic fibrosis had been detected.<ref name="pmid18639722">{{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>


In 1988, the first mutation for CF, [[Delta-F508|ΔF508]], was discovered by Francis Collins, [[Lap-Chee Tsui]] and John R. Riordan on the seventh chromosome. Research has subsequently found over 1000 different mutations that cause CF. Lap-Chee Tsui led a team of researchers at the [[Hospital for Sick Children]] in Toronto that discovered the gene responsible for CF in 1989. Cystic fibrosis represents the first genetic disorder elucidated strictly by the process of [[reverse genetics]]. Because mutations in the CFTR gene are typically small, [[classical genetics]] techniques were not able to accurately pinpoint the mutated gene.<ref>Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. ''Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.'' Science. 1989 Sep 8;245(4922):1066–73. Erratum in: Science 1989 Sep 29;245(4925):1437. PMID 2475911</ref> Using protein markers, [[gene linkage]] studies were able to map the mutation to chromosome 7. [[Chromosome walking]] and [[chromosome jumping|jumping]] techniques were then used to identify and [[DNA sequencing|sequence]] the gene.<ref>Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, et al. ''Identification of the cystic fibrosis gene: chromosome walking and jumping.''Science. 1989 Sep 8;245(4922):1059–65. PMID 2772657 </ref>
=== Landmark Events in the Development of Treatment Strategies ===
* In 1990, scientists successfully added [[Cloning|cloned]] normal [[gene]] to cystic fibrosis cells in the [[Medical laboratory|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-. Cystic fibrosis. [Updated 2011 Jan 31]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK22202/</ref>


===Public Awareness===
==References==
{{Reflist|2}}


Some children with cystic fibrosis in the United States call their disease ''65 Roses'' because the words are easier to pronounce. This trademarked phrase has been popularized by the [[Cystic Fibrosis Foundation]]. The phrase came into being when it was used by a young boy who had overheard his mother, a volunteer for the Foundation, speaking of his illness. He later informed her that he knew she was working to help with "sixty-five roses"<ref name="65roses">{{cite web| url =http://www.cff.org/aboutCFFoundation/About65Roses/| title =The Story of 65 Roses| publisher =[[Cystic Fibrosis Foundation]]| accessdate =2006-07-06}}</ref> The term has since been used as a symbol by organizations and families of cystic fibrosis victims.
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==References==
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Latest revision as of 16:09, 27 March 2018


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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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