Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add filters








Language
Year range
1.
Indian Pediatr ; 2016 Sept; 53(9): 829-830
Article in English | IMSEAR | ID: sea-179229

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.

SELECTION OF CITATIONS
SEARCH DETAIL