European Journal of Pediatrics

, Volume 157, Issue 10, pp 783–797 | Cite as

Fanconi-Bickel syndrome – the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature

  • R. Santer
  • R. Schneppenheim
  • D. Suter
  • J. Schaub
  • B. Steinmann
REVIEW

Abstract

Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in Glut2, the gene for the glucose transporter protein 2 expressed in liver, pancreas, intestine and kidney. The disease was first described in a 3-year-old Swiss boy in 1949. Here we report a follow up of this original patient over more than 50 years and show that the typical clinical and laboratory findings of FBS (hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature) persist into adulthood. We further summarize the historical observations that eventually led to the identification of the basic defect of FBS and give an overview of the 82 cases from 70 families in the published literature and from personal communications.

Conclusion Although with the first description of a congenital defect of facilitative glucose transport the main steps in the pathophysiology of Fanconi-Bickel syndrome have been elucidated, numerous pathophysiological mechanisms are far from clear and thus encourage the ongoing study of patients with this disorder.

Key words Fanconi-Bickel syndrome Facilitative glucose transport Glut2 Glycogen storage disease 

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Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • R. Santer
    • 1
  • R. Schneppenheim
    • 1
  • D. Suter
    • 2
  • J. Schaub
    • 1
  • B. Steinmann
    • 3
  1. 1.University Children's Hospital, Schwanenweg 20, D-24105 Kiel, Germany, e-mail: santer@pediatrics.uni-kiel.de Tel.: +49-431-597-1622; Fax: +49-431-597-1831DE
  2. 2.Medical Practice, CH-6537 Grono, SwitzerlandCH
  3. 3.Division of Metabolic and Molecular Diseases, University Children's Hospital, CH-8032 Zurich, Switzerland e-mail: binges@kispi.unizh.chCH

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