The Korean Journal of Medicine

  • 제85권2호
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  • Pages.210-213
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  • 2013
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  • 1738-9364(pISSN)
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  • 2289-0769(eISSN)
대한내과학회 (The Korean Association of Internal Medicine)
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경한 임상양상을 보인 판코니-비켈 증후군 1예

A Case of Fanconi-Bickel Syndrome with Mild Clinical Signs

  • 김소미 (제주대학교 의학전문대학원 내과학교실) ;
  • 유한욱 (울산대학교 의과대학 서울아산병원 소아청소년병원 의학유전학센터) ;
  • 김현우 (제주대학교 의학전문대학원 내과학교실)
  • 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)
  • 투고 : 2013.01.24
  • 심사 : 2013.04.10
  • 발행 : 2013.08.01
⟨ 이전 논문 다음 논문 ⟩

초록

본 증례는 판코니-비켈 증후군으로 유전자 검사를 통해 진단되었으나 전형적인 임상양상과는 다른 경한 경과를 보여 유전자 돌연변이를 포함하여 문헌고찰과 함께 보고하는 바이다.

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.

키워드

참고문헌

  1. Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B. Fanconi-Bickel syndrome: the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. Eur J Pediatr 1998;157:783-797. https://doi.org/10.1007/s004310050937
  2. Leturque A, Brot-Laroche E, Le Gall M. GLUT2 mutations, translocation, and receptor function in diet sugar managing. Am J Physiol Endocrinol Metab 2009;296:E985-992. https://doi.org/10.1152/ajpendo.00004.2009
  3. Mohandas Nair K, Sakamoto O, Jagadeesh S, Nampoothiri S. Fanconi-Bickel syndrome. Indian J Pediatr 2012;79: 112-114. https://doi.org/10.1007/s12098-011-0373-5
  4. Grünert SC, Schwab KO, Pohl M, Sass JO, Santer R. Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. Mol Genet Metab 2012;105:433-437. https://doi.org/10.1016/j.ymgme.2011.11.200
  5. Fanconi G, Bickel H. Die chronisch Aminoacidurie (Aminosaure diabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glukogenose und der Cystinkrankheit. Helv Paediatr Acta 1949;4:359-396.
  6. Manz F, Bickel H, Brodehl J, et al. Fanconi-Bickel syndrome. Pediatr Nephrol 1987;1:509-518. https://doi.org/10.1007/BF00849262
  7. Santer R, Schneppenheim R, Dombrowski A, Gotze H, Steinmann B, Schaub J. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi- Bickel syndrome. Nat Genet 1997;17:324-326. https://doi.org/10.1038/ng1197-324
  8. Santer R, Groth S, Kinner M, et al. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum Genet 2002;110:21-29. https://doi.org/10.1007/s00439-001-0638-6
  9. Sakamoto O, Ogawa E, Ohura T, et al. Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. Pediatr Res 2000;48:586-589. https://doi.org/10.1203/00006450-200011000-00005
  10. Kentrup H, Altmüller J, Pfäffle R, Heimann G. Neonatal diabetes mellitus with hypergalactosemia. Eur J Endocrinol 1999;141:379-381. https://doi.org/10.1530/eje.0.1410379