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Fanconi-Bickel syndrome

  • International Symposium on Hereditary Nephropathies Heidelberg, 6–8 October, 1986
  • Published:
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Abstract

Clinical, biochemical, functional and morphological data are presented in nine infants, children and adults, with Fanconi-Bickel syndrome. Long-term follow-up studies show severe growth retardation, partly compensated for by late onset of puberty. Glomerular filtration rate is normal or slightly decreased. Renal tubular dysfunction is characterized by a specific pattern of impaired proximal tubular transport mechanisms, with marked impairment of glucose transport. The utilization of glucose and galactose is defective, wheras fructose metabolism seems to be normal. Glycogenosis of the liver may be an epiphenomenon. Glycogen accumulation in the kidney is limited to the proximal tubule, with maximal levels in the straight part. The Fanconi-Bickel syndrome is a defined clinical entity which is distinguished from other inherited metabolic diseases by complex defects of renal tubular transport and other forms of glycogenosis.

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Author information

Authors and Affiliations

  1. Research Institute for Child Nutrition, Heinstück 11, D-4600, Dortmund 50, Germany

    Friedrich Manz

  2. University Children's Hospital, University of Heidelberg, Im Neuenheimer Feld, D-6900, Heidelberg, Germany

    Horst Bickel, Dietrich Feist & Walter Nützenadel

  3. Department of Pathology, University of Heidelberg, Im Neuenheimer Feld, D-6900, Heidelberg, Germany

    Rüdiger Waldherr

  4. Children's Hospital, Medical School Hannover, D-3000, Hannover, Germany

    Johannes Brodehl

  5. Children's Hospital, D-5450, Neuwied, Germany

    Karl Gellissen

  6. Wippertstrasse 3, D-7800, Freiburg, Germany

    Brigitte Geschöll-Bauer

  7. Children's Hospital “Florence Nightingale”, D-4000, Düsseldorf, Germany

    Giulio Gilli

  8. Children's Hospital of the Technical University, D-8000, München, Germany

    Erik Harms

  9. Children's Hospital St. Hedwig, D-7800, Freiburg, Germany

    Helmut Helwig

Authors
  1. Friedrich Manz
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  2. Horst Bickel
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  3. Johannes Brodehl
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  4. Dietrich Feist
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  6. Brigitte Geschöll-Bauer
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  7. Giulio Gilli
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  8. Erik Harms
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  9. Helmut Helwig
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  11. Rüdiger Waldherr
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Manz, F., Bickel, H., Brodehl, J. et al. Fanconi-Bickel syndrome. Pediatr Nephrol 1, 509–518 (1987). https://doi.org/10.1007/BF00849262

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