Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene

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• 作者：Mohit Kehar (1)
  Sunita Bijarnia (2)
  Sian Ellard (3) (4)
  Jayne Houghton (3)
  Renu Saxena (2)
  I. C. Verma (2)
  Nishant Wadhwa (1)
  
• 关键词：Fanconi ; Bickel syndrome ; Renal tubular acidosis ; Hyperglycemia ; Glycogenolysis ; SLC2A2 gene ; India
• 刊名：The Indian Journal of Pediatrics
• 出版年：2014
• 出版时间：November 2014
• 年：2014
• 卷：81
• 期：11
• 页码：1237-1239
• 全文大小：371 KB
• 参考文献：1. Fanconi G, Bickel H. Die chronische Aminoaciduria (Aminosaeurediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit. Helv Paediat Acta. 1949;4:359-6.
  2. Santer R, Schneppenheim R, Dombrowski A, G?tze 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-. CrossRef
  3. Santer R, Steinmann B, Schaub J. Fanconi-Bickel syndrome–a congenital defect of facilitative glucose transport. Curr Mol Med. 2002;2:213-7. CrossRef
  4. Lee PJ, Van’t Hoff WG, Leonard JV. Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch. J Inherit Metab Dis. 1995;18:153-. CrossRef
  5. Karande S, Kumbhare N, Kulkarni M. Fanconi–Bickel syndrome. Indian Pediatr. 2007;44:223-.
  6. Mohandas Nair K, Sakamoto O, Jagadeesh S, Nampoothiri S. Fanconi-Bickel syndrome. Indian J Pediatr. 2012;79:112-. CrossRef
  7. Gopalakrishnan A, Kumar M, Krishnamurthy S, Sakamoto O, Srinivasan S. Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene. Clin Exp Nephrol. 2011;15:745-. CrossRef
  8. Ekbote AV, Mandal K, Agarwal I, Sinha R, Danda S. Fanconi- Bickel Syndrome: mutation in an Indian patient. Indian J Pediatr. 2012;79:810-. CrossRef
  
• 作者单位：Mohit Kehar (1)
  Sunita Bijarnia (2)
  Sian Ellard (3) (4)
  Jayne Houghton (3)
  Renu Saxena (2)
  I. C. Verma (2)
  Nishant Wadhwa (1)
  
  1. Division of Pediatric Gastroenterology and Hepatology, Sir Ganga Ram Hospital, Rajendra Nagar, New Delhi, India
  2. Center of Medical Genetics, Sir Ganga Ram Hospital, Rajendra Nagar, New Delhi, 110060, India
  3. Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, EX2 5AD, UK
  4. Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK
  
• ISSN：0973-7693

文摘

Fanconi-Bickel Syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism. The defect in the GLUT 2 receptors in the hepatocytes, pancreas and renal tubules leads to symptoms secondary to glycogen storage, glucose metabolism and renal tubular dysfunction. Derangement in glucose metabolism is classical with fasting hypoglycemia and post-prandial hyperglycemia. The authors report a 4-year-old boy who presented with failure to thrive, motor delay, protuberant abdomen and was noted to have huge hepatomegaly with glycogen deposition in liver, and renal tubular acidosis. Gene sequencing revealed homozygous mutation, c.1330T > C in SLC2A2 gene, thus confirming the diagnosis of FBS. Only three mutations have been reported from India so far. The primary reason for referral to authors-hospital was for liver transplantation, but an accurate diagnosis led to avoidance of the major surgery and streamlining of treatment with clinical benefit to the child and family.