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This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
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Fanconi-Bickel syndrome
Associated persons:
Horst Bickel
Guido Fanconi
Description:
A rare syndrome characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. Inheritance is autosomal recessive.
Guido Fanconi and H. Bickel in 1949 described what they believed to be the first combination of tubular nephropathy and glycogen storage disease in a three year old boy born to consanguineous parents living in a remote valley in the southern Swiss Alps.
Bibliography:
- G. Fanconi, H. Bickel:
Die chronische Aminoacidurie (Aminosäurediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit.
Helvetica paediatrica acta, Basel, 1949, 4: 359-396.
- F. Manz, H. Bickel, J. Brodehl, D. Feist, K. Gellissen, B. Gescholl-Bauer, G. Gilli, E. Harms, H. Helwig, W. Nutzenadel, R. Waldherr:
Fanconi-Bickel syndrome.
Pediatric Nephrology, Berlin, 1987, 1: 509-518.
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