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http://dx.doi.org/10.3904/kjm.2013.85.2.210

A Case of Fanconi-Bickel Syndrome with Mild Clinical Signs  

Kim, So Mi (Department of Internal Medicine, Jeju National University School of Medicine)
Yoo, Han-Wook (Department of Medical Genetics Clinic and Laboratory, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Kim, Hyun Woo (Department of Internal Medicine, Jeju National University School of Medicine)
Publication Information
The Korean Journal of Medicine / v.85, no.2, 2013 , pp. 210-213 More about this Journal
Abstract
Fanconi-Bickel syndrome is a rare autosomal recessive disorder caused by a mutation in the facilitative glucose transporter 2 gene (GLUT2 or SLC2A2 gene) that codes for the glucose transporter protein 2 expressed in hepatocytes, pancreatic beta-cells, enterocytes, and renal tubular cells. Mutation of this gene leads to defective carbohydrate metabolism, hepatomegaly, glucose intolerance, proximal renal tubular dysfunction, and hypophosphatemic rickets. We report a case of Fanconi-Bickel syndrome in an 18-year-old man who presented due to renal glycosuria; a mutation was identified in the GLUT2 gene (c.482C > A + c.1556G > A). To the best of our knowledge, unlike previous reports of Fanconi-Bickel syndrome, this case was relatively unusual in that it caused only mild clinical signs.
Keywords
Fanconi-Bickel syndrome; Glucose transporter type 2; Mutation;
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