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Guido Fanconi
Swiss paediatrician, born January 1, 1892, Poschiavo, Canton Grisons (Graubünden) in the Italian-speaking region of Switzerland; died October 10, 1979, Poschiavo.
Associated eponyms:
Abderhalden-Kaufmann-Lignac syndrome
Autosomal recessive syndrome of disturbance of amino acid transport characterized by deposition of cystine crystals in numerous tissues of the body, particularly evident in the conjunctiva and cornea.
Addison-Schilder syndrome
A metabolic disorder combining the characteristics of Addison’s disease (bronze skin disease) and cerebral sclerosis (Schilder disease).
Clarke-Hadfield syndrome
Obsolete entity of infantilism caused by congenital pancreatic insufficiency.
De Toni-Debré-Fanconi syndrome
A condition marked by a defect in the reabsorption of glucose, amino acids, phosphate and potassium.
Fanconi's anaemia
A familial syndrome consisting of pancytopenia associated with short stature, small skull, characteristic facies, hypogonadism, patchy melanotic pigmentation of the skin, as well as non-specific chromosomal changes.
Fanconi's syndrome I
An autosomal dominant disease reported in children and young adults.
Fanconi-Albertini-Zellweger syndrome
A syndrome of congenital heart defect, osteoporosis with spontaneous fractures , curving of the long bones, growth retardation, and other anomalies.
Fanconi-Bickel syndrome
A rare syndrome characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose.
Fanconi-Hegglin syndrome
This eponym has been used to designate a nonspecific positive serology for syphilis in cases of viral pneumonias.
Fanconi-Patrassi syndrome
Obsolete, no longer used term for a condition in the groups of thalassemias.
Fanconi-Turler syndrome
A syndrome marked by cerebellar ataxia associated with uncoordinated eye movements, nystagmus, dysmetria, and mental retardation.
Landsteiner-Fanconi-Andersen syndrome (Dorothy Hansine Andersen)
Cystic fibrosis of the pancreas.
Luder-Sheldon syndrome
A condition characterized by faulty renal tubular reabsorption of glucose and amino acids, causing glycosuria and aminoaciduria and resultant dwarfism.
Luder-Sheldon syndrome
A syndrome characterized by faulty renal tubular reabsorption of glucose and amino acids, causing glycosuria and aminoaciduria and resultant dwarfism.
Prader-Labhardt-Willi syndrome
A syndrome characterised by pre and postnatal muscular hypotonia, thus giving an appearance of severe brain damage.
Williams-Beuren syndrome
A congenital syndrome of characteristic elfinlike facies, mental retardation, growth deficiency, cardiovascular anomalies (supraventricular aortic stenosis), and idiopathic infantile hypercalcaemia.
Wissler's disease
A symptom complex characterised by by the clinical features of a high intermittent fever of septic type, constantly recurring exanthema, transient arthralgia, carditis, pleurisy, neutrophil leukocytosis, and increased erythrocyte sedimentation rate.
Zinsser-Engman-Cole syndrome
A rare, inherited disorder characterized by reticulate skin pigmentation.
Zinsser-Fanconi syndrome
An association of the Zinsser-Engman-Cole syndrome with Fanconi aplastic anemia.
Biography:
Guido Fanconi was the son of Pietro Antonio, formerly a coffee shop owner in Spain, and Alice von Grebel, daughter of the president of the district court of Zurich. He went to school in Schiers (in the German speaking part of Switzerland) and Zurich and studied medicine in Lausanne, Bern and Zurich, obtaining his medical doctorate in 1919. From 1920 to 1926 he trained in paediatrics under Emil Feer-Sulzer (1864-1955) at the Kinderspital (the university children's hospital) in Zurich, and then gained more experience in academic centres in Europe until 1929. That year he became director of the Children’s Hospital and professor of paediatrics at the University of Zurich.
Fanconi is regarded as one of the founders of modern paediatrics and a great innovator in applying the scientific methodology of biochemistry and physiology to the investigation of clinical problems. In 1930 he gave a paper to the 2nd International Conference of Paediatrics in Stockholm in which he advocated the use of raw fruit in the treatment of acute diarrhoea. One discussant told him he was crazy, but this led to the development of pectin as an anti-diarrhoeal agent. One of his main concerns was the problems of children in the underdeveloped countries of the world.
Fanconi was president of the International Pediatric Association from 1947 to 1950, and secretary general 1951–1967. In 1945 he founede the journal Helvetica Paediatrica Acta.
His name is attached to 17 conditions that have been entered in this dictionary.
We thank Patrick Jucker-Kupper for information submitted.
Bibliography:
- G. Fanconi:
Fünf Fälle von angeborenem Darmverschluss.
Inaugural-Dissertation, Universität Zurich (Doctoral Thesis), 1920.
Klinische und Serologische Beiträge zum Scharlachproblem.
Habilitationsschrift. Universität Zurich, 1926.
Familiäre infantile perniziosaartige Anämie (perniziöses Blutbild und Konstitution).
Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
Klinische und serologische Beiträge zum Scharlachproblem.
Habilitationsschrift, 1929.
Die nicht diabetischen Glykosurien und Hyperglykämien des älteren Kindes.
Jahrbuch für Kinderheilkunde und physische Erziehung, Wien, 1931, 133: 257-300.
Hochgradige Galaktose-intoleranz (Galaktose-Diabetes) bei einem Kinde mit Neurifibromatosis Recklinghausen.
Jahrbuch für Kinderheilkunde und physische Erziehung, Wien, 1933, 138: 1-8
- G. Fanconi, E. Uehlinger, C. Knauer:
Das Coeliakiesyndrom bei angeborener zystischer Pankreasfibromatose und bronchiektasien. Wiener medizinische Wochenschrift, 1936, 86: 753-756.
- G. Fanconi:
Der frühinfantile nephrotischglykosurische Zwergwuchs mit hypophosphatämischer Rachitis.
Jahrbuch für Kinderheilkunde und physische Erziehung, Wien, 1936, 147: 299-304.
- G. Fanconi and Anders Johan Wallgren (1889-1973):
Lehrbuch der Pädiatrie. Basel, B. Schwabe, 1950.
A standard textbook that was translated into eight languages. 9th edition, 1972.
- G. Fanconi, E. Hanhart, A. von Albertini, E. Uehlinger, G. Dolivo, A. Prader:
Die familiäre juvenile Nephronophthise.
Helvetica paediatrica acta, Basel, 1951, 6: 1-49.
- G. Fanconi, P. Girardet, B. Schlesinger, N. Butelr, J. A. Black:
Chronische Hypercalcaemie kombiniert mit Osteosklerose, Hyperazotaemie, Minderwuchs und kongenitalen Missbildungen.
Helvetica paediatrica acta, Basel, 1952, 7 : 314-334.
- G. Fanconi:
Die Familiäre Panmyelopathie.
Schweizerische medizinische Wochenschrift, Basel, 1964, 94: 1309-1318.
- A. Fanconi, G. Schachenmann, R. Nussli, A. Prader:
Chronic hypokalemia with growth retardation, normotensive hyperrenin-hyperaldosterism ("Bartter's syndrome"), and hypercalciuria: report of two cases with emphasis on natural history and on catch-up growth during treatment.
Helvetica paediatrica acta, Basel, 1971, 26: 144-163.
- G. Fanconi:
Problemas actuales y futuros de la medicina.
En : Avances en Pediatría. XII Jornadas Pediátricas Internacionales, pp. 195-204. Publicaciones de la Universidad de Sevilla, 1979.
- Richard F. Stevens, Stefan Meyer
Historical Review: Fanconi and Glanzmann: the men and their works.
British Journal of Haematology. December 2002, 119 (4): 901.
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