Fanconi–Bickel Syndrome

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• 作者：Mohandas Nair K (1)
  Osamu Sakamoto (2)
  Sujatha Jagadeesh (3)
  Sheela Nampoothiri (4)
  
• 关键词：Rickets ; Fanconi syndrome ; Glycogen storage disease type XI ; Fanconi ; Bickel syndrome
• 刊名：The Indian Journal of Pediatrics
• 出版年：2012
• 出版时间：January 2012
• 年：2012
• 卷：79
• 期：1
• 页码：112-114
• 全文大小：131KB
• 参考文献：1. Santer R, Steinmann B, Schaub J. Fanconi–Bickel syndrome—a congenital defect of facilitative glucose transport. Curr Mol Med. 2002;2:213-7. CrossRef
  2. Fanconi G, Bickel H. Die chronische Aminoacidurie (Aminos?urediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit. Helv Paediatr acta. 1949;4:359-6.
  3. Furlan F, Santer R, Vismara E, et al. Bilateral nuclear cataracts as the first neonatal sign of Fanconi–Bickel syndrome. J Inherit Metab Dis. 2006;29:685. CrossRef
  4. Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B. Eur J Pediatr. 1998;157:783-7. CrossRef
  5. Taha D, Al-Harbi N, Al-Sabban E. Hyperglycemia and hypoinsulinemia in patients with Fanconi–Bickel syndrome. J Pediatr Endocrinol Metab. 2008;6:581-.
  6. Sakamato O, Ogawa E, Ohura T, et al. Mutation analysis of the GLUT2 gene in patients with Fanconi–Bickel syndrome. Pediatr Res. 2000;48:586-. CrossRef
  7. Scheepers A, Joost HG, Schürmann A. The glucose transporter families SGLT and GLUT: molecular basis of normal and aberrant function. J Parenter Enteral Nutr. 2004;28:364-. CrossRef
  8. 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
  
• 作者单位：Mohandas Nair K (1)
  Osamu Sakamoto (2)
  Sujatha Jagadeesh (3)
  Sheela Nampoothiri (4)
  
  1. Department of Pediatrics, Medical College, Calicut, Kerala, India
  2. Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, Sendai, 980-8574, Japan
  3. Fetal Care Research Foundation, Chennai, India
  4. Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Cochin, Kerala, 682041, India
  

文摘

We Present the first mutation proven case of Fanconi–Bickel syndrome, a rare type of glycogen storage disease, from India. A four-year-old girl presented with severe growth retardation, genu varum and hepatomegaly. Investigations confirmed severe hypophosphatemic rickets and Fanconi syndrome. Molecular analysis confirmed a homozygous deletion insertion mutation in Glut 2 gene.