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Indian Pediatr ; 2016 Sept; 53(9): 829-830
Artigo em Inglês | IMSEAR | ID: sea-179229

RESUMO

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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