Abstract
Background
Fanconi Bickel Syndrome is a rare, autosomal recessive, disorder of carbohydrate metabolism. Presence of hypercalciuria is rare.
Case characteristics
4.5-years-old boy presented with growth failure, hepatomegaly, rickets, fasting hypoglycemia with postprandial hyperglycemia, fanconi syndrome and hypercalciuria
Outcome
A rare mutation in GLUT-2 gene suggestive of Fanconi Bickel Syndrome.
Message
Fanconi Bickel Syndrome may present with hypercalciuria with proximal renal tubulopathy along with fasting hypoglycemia and postprandial hyperglycemia.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Santer R, Steinmann B, Schaub J. Fanconi–Bickel syndrome-a congenital defect of facilitative glucose transport. Curr Mol Med. 2002;2:213–27.
Santer R, Groth S, Kinner M, Dombrowski A, Berry GT, Brodehl J, et al. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Human Genet. 2002;110:21–9
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;15:745–8.
Mohandas Nair K, Sakamoto O, Jagadeesh S, Nampoothiri S. Fanconi–Bickel syndrome. Indian J Pediatr. 2012; 79:112–4.
Karande S, Kumbhare N, Kulkarni M. Fanconi Bickel syndrome. Indian Pediatr. 2007;44:223–5.
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;157:783–97.
Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, et al. Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. J Clin Endocrinol Metab. 2012;97:E1978–86.
Müller D, Santer R, Krawinkel M, Christiansen B, Schaub J. Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. J Inherit Metab Dis. 1997; 20:607–8.
Setoodeh A, Rabbani A. Transient neonatal diabetes as a presentation of Fanconi-Bickel Syndrome. Acta Med Iran. 2012;50:836–8.
Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, et al. The HNF4A R76 W mutation causes atypical dominant Fanconi syndrome in addition to a a-cell phenotype. J Med Genet. 2014;51: 165.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Shah, R., Rao, S., Parikh, R. et al. Fanconi Bickel Syndrome with hypercalciuria due to GLUT 2 mutation. Indian Pediatr 53, 829–830 (2016). https://doi.org/10.1007/s13312-016-0939-4
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s13312-016-0939-4