Cystic fibrosis historical perspective
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
History
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.[1] Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply cystic fibrosis.[2] 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.[3] In 1936, Guido Fanconi published a paper describing a connection between celiac disease, cystic fibrosis of the pancreas, and bronchiectasis.[4]
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.[1] 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.[5]
In 1988, the first mutation for CF, 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.[6] Using protein markers, gene linkage studies were able to map the mutation to chromosome 7. Chromosome walking and jumping techniques were then used to identify and sequence the gene.[7]
Public Awareness
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"[8] The term has since been used as a symbol by organizations and families of cystic fibrosis victims.
References
- ↑ 1.0 1.1 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
- ↑ "Cystic Fibrosis; CF - Mucoviscidosis". Entrez. April 26, 2006. Retrieved 2007-02-28. Check date values in:
|date=(help) - ↑ Busch R. On the history of cystic fibrosis. Acta Univ Carol [Med] (Praha). 1990;36(1-4):13-5. PMID 2130674
- ↑ Fanconi G, Uehlinger E, Knauer.C. Das coeliakiesyndrom bei angeborener zysticher pankreasfibromatose und bronchiektasien. Wien Med Wschr 1936; 86:753–756.
- ↑ 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.
- ↑ 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
- ↑ 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
- ↑ "The Story of 65 Roses". Cystic Fibrosis Foundation. Retrieved 2006-07-06.