Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation.

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.