Indian Pediatrics 2016-Sep
Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation.
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Abstrakt
BACKGROUND
Fanconi Bickel Syndrome is a rare, autosomal recessive, disorder of carbohydrate metabolism. Presence of hypercalciuria is rare.
UNASSIGNED
4.5-years-old boy presented with growth failure, hepatomegaly, rickets, fasting hypoglycemia with postprandial hyperglycemia, fanconi syndrome and hypercalciuria.
RESULTS
A rare mutation in GLUT-2 gene suggestive of Fanconi Bickel Syndrome.
UNASSIGNED
Fanconi Bickel Syndrome may present with hypercalciuria with proximal renal tubulopathy along with fasting hypoglycemia and postprandial hyperglycemia.
