Fanconi anemia historical perspective

Jump to navigation Jump to search

Fanconi anemia Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Fanconi anemia from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Fanconi anemia historical perspective On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Fanconi anemia historical perspective

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Fanconi anemia historical perspective

CDC on Fanconi anemia historical perspective

Fanconi anemia historical perspective in the news

Blogs on Fanconi anemia historical perspective

Directions to Hospitals Treating Fanconi anemia

Risk calculators and risk factors for Fanconi anemia historical perspective

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

  1. 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.
  2. 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.
  3. Fanconi A (2015). "Guido Fanconi, MD, 1892 - 1979 Swiss Pediatrician Life and Performance". Pediatr Endocrinol Rev. 12 (4): 343–6. PMID 26182478.
  4. Akkari Y, Olson S (2004). "Fanconi Anemia: A Decade of Discoveries". J Assoc Genet Technol. 30 (2): 48–53. PMID 15345865.
  5. 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 |doi= value (help). PMID 18587688.

Template:WH Template:WS