Fanconi anemia historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
The discovery of fanconi anemia is largely the work of Swiss pediatrician Guido Fanconi who observed various finding of fanconi anemia to be different then pernicious anemia and led to its discovery.
Historical Perspective
Following Are landmark events of discovery of fanconi anemia.
Discovery
- In 1927, Guido Fanconi, a Swiss pediatrician published his observations ‘Familiäre, infantile, perniziosaartige Anämie’{Familial, infantile, pernicious anemia}.[1]
- In 1931, Erwin Uehlinger, a German Pathologist, published article showing that findings of Guido Fanconi are different from pernicious anemia this type of constitutional anaemia was often associated with pancytopenia and that congenital malformations.[2]
- In 1937, Guido Fanconi described the renal fanconi syndrome based on observation of de Toni and Debre, characterized by growth retardation, aminoaciduria, glycosuria and hypophosphataemic rickets. [3]
- In 1967, Guido Fanconi described Fanconi anemia (FA) findings as separate entity than pernicious anemia.[4]
- In 1931, Otto Naegeli, a Swiss hematologist introduced the name ‘Fanconi's Anaemia'[5]
- In 2013,, it was found that Fanconi anemia genes were altered in 40% of cancers based on The Cancer Genome Atlas (TCGA) data.
References
- ↑ Niraj J, Färkkilä A, D'Andrea AD (2019). "The Fanconi Anemia Pathway in Cancer". Annu Rev Cancer Biol. 3: 457–478. doi:10.1146/annurev-cancerbio-030617-050422. PMC 6417835. PMID 30882047.
- ↑ Adler CP (1981). "[In Memoriam: Erwin Uehlinger (8. August 1899 - 18. April 1980)]". Pathol Res Pract. 171 (3–4): 281–4. doi:10.1016/S0344-0338(81)80100-8. PMID 7024952.
- ↑ Fanconi A (2015). "Guido Fanconi, MD, 1892 - 1979 Swiss Pediatrician Life and Performance". Pediatr Endocrinol Rev. 12 (4): 343–6. PMID 26182478.
- ↑ Akkari Y, Olson S (2004). "Fanconi Anemia: A Decade of Discoveries". J Assoc Genet Technol. 30 (2): 48–53. PMID 15345865.
- ↑ Scheidegger D (2008). "Otto Naegeli Prize awarded to Pierre-Alain Clavien". Swiss Med Wkly. 138 (25–26): 359–60. doi:2008/25/smw-12354 Check
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