A Case of Fanconi-Bickel Syndrome with Mild Clinical Signs.
- Author:
So Mi KIM
1
;
Han Wook YOO
;
Hyun Woo KIM
Author Information
1. Department of Internal Medicine, Jeju National University School of Medicine, jeju, Korea. andrewmanson@jejunuh.co.kr
- Publication Type:Case Report
- Keywords:
Fanconi-Bickel syndrome;
Glucose transporter type 2;
Mutation
- MeSH:
Carbohydrate Metabolism;
Enterocytes;
Fanconi Syndrome;
Glucose Intolerance;
Glucose Transport Proteins, Facilitative;
Glucose Transporter Type 2;
Hepatocytes;
Hepatomegaly;
Hypophosphatemic Rickets, X-Linked Dominant
- From:Korean Journal of Medicine
2013;85(2):210-213
- CountryRepublic of Korea
- Language:Korean
-
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.
