Fanconi-Bickel syndrome

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A rare syndrome characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose.

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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