Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation.
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Language:
English
Journal:
Indian Pediatr
Year:
2016
Type:
Article
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