Title |
Fanconi-Bickel syndrome – the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature
|
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Published in |
European Journal of Pediatrics, September 1998
|
DOI | 10.1007/s004310050937 |
Pubmed ID | |
Authors |
R. Santer, R. Schneppenheim, D. Suter, J. Schaub, B. Steinmann |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 3% |
Germany | 1 | 1% |
Unknown | 65 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 12 | 18% |
Student > Ph. D. Student | 8 | 12% |
Researcher | 8 | 12% |
Student > Master | 8 | 12% |
Student > Doctoral Student | 6 | 9% |
Other | 12 | 18% |
Unknown | 14 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 27 | 40% |
Agricultural and Biological Sciences | 10 | 15% |
Biochemistry, Genetics and Molecular Biology | 9 | 13% |
Pharmacology, Toxicology and Pharmaceutical Science | 3 | 4% |
Nursing and Health Professions | 2 | 3% |
Other | 2 | 3% |
Unknown | 15 | 22% |