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  • Title: Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation.
    Author: Shah R, Rao S, Parikh R, Sophia T, Khalid H.
    Journal: Indian Pediatr; 2016 Sep 08; 53(9):829-830. PubMed ID: 27771652.
    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.
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