Guido Fanconi () (1 January 1892 – 10 October 1979) was a
Swiss
Swiss may refer to:
* the adjectival form of Switzerland
*Swiss people
Places
* Swiss, Missouri
*Swiss, North Carolina
* Swiss, West Virginia
*Swiss, Wisconsin
Other uses
* Swiss-system tournament, in various games and sports
* Swiss Internation ...
pediatrician
Pediatrics ( also spelled ''paediatrics'' or ''pædiatrics'') is the branch of medicine that involves the medical care of infants, children, adolescents, and young adults. In the United Kingdom, paediatrics covers many of their youth until the ...
. He was born in
Poschiavo
Poschiavo ( it, Poschiavo, lmo, Pusciaaf, german: Puschlav, rm, Puschlav) is a municipality in the Bernina Region in the canton of Grisons in Switzerland.
History
Poschiavo is first mentioned in 824 as ''in Postclave'' though this comes fro ...
, a small village in the Canton of
Grisons
The Grisons () or Graubünden,Names include:
*german: (Kanton) Graubünden ;
* Romansh:
** rm, label= Sursilvan, (Cantun) Grischun
** rm, label= Vallader, (Chantun) Grischun
** rm, label= Puter, (Chantun) Grischun
** rm, label= Surmiran, (Ca ...
. Fanconi is regarded as one of the founders of modern pediatrics.
He received his secondary school education in
Zurich. In 1911, he began his medical training in
Lausanne
, neighboring_municipalities= Bottens, Bretigny-sur-Morrens, Chavannes-près-Renens, Cheseaux-sur-Lausanne, Crissier, Cugy, Écublens, Épalinges, Évian-les-Bains (FR-74), Froideville, Jouxtens-Mézery, Le Mont-sur-Lausanne, Lugrin (FR ...
. In 1920, he entered the Kinderspital (Children's Hospital) of the
University of Zurich, where, with the exception of one year, he remained for 45 years.
Fanconi recognized the importance of biochemistry to clinical medicine. In 1929 he succeeded Emil Feer as professor of pediatrics and head of the Kinderspital. Under his direction, it became one of the most renowned children's hospitals in the world.
There are several
medical conditions named after Dr. Fanconi. In 1927 he described hereditary panmyelopathy with short stature and hyperpigmentation, better known as
Fanconi anemia
Fanconi anaemia (FA) is a rare genetic disease resulting in impaired response to DNA damage. Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of no ...
. In 1934 the first cases of cystic fibrosis of the pancreas were described in a thesis written under his direction. In 1941 a large epidemic of poliomyelitis occurred in Switzerland. Fanconi analyzed its epidemiology and found that the virus was not transmitted by droplet infection, as previously assumed, but rather follows a gastrointestinal pathway like typhoid fever. His understanding of pathophysiologic connections culminated in his prediction that
Down syndrome
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual d ...
was due to a chromosomal abnormality, 20 years before trisomy 21 was discovered. His contributions to
renal physiology led to renal
Fanconi syndrome being named for him.
In 1945 he founded a new pediatric journal, ''
Helvetica Paediatrica Acta
Helvetica (originally Neue Haas Grotesk) is a widely used sans-serif typeface developed in 1957 by Swiss typeface designer Max Miedinger and Eduard Hoffmann.
Helvetica is a neo-grotesque design, one influenced by the famous 19th century (1890 ...
'', which has become an internationally renowned periodical. Dr. Fanconi retired in 1965 from his chairmanship in pediatrics, but continued to practice and lecture until his death.
See also
*
Fanconi anemia
Fanconi anaemia (FA) is a rare genetic disease resulting in impaired response to DNA damage. Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of no ...
*
Prader-Willi syndrome, discovered by a team of physicians including Fanconi.
*
Fanconi syndrome
References
* Journal of Pediatrics. 96(4), pg. 674
External links
Who Named It? - Guido FanconiBiography of Guido Fanconi
by Stephan Lobitz (Berlin, Germany) and Eunike Velleuer (Düsseldorf, Germany), published in ''Nature Reviews Cancer
''Nature Reviews Cancer'' is a monthly review journal covering the field of oncology. It was established in 2001. The editor-in-chief is Anna Dart.
Abstracting and indexing
The journal is abstracted and indexed in:
*PubMed
*Science Citation Ind ...
'' (Nov. 2006)
{{DEFAULTSORT:Fanconi, Guido
1892 births
1979 deaths
People from Poschiavo
Swiss pediatricians
People associated with the University of Zurich