Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation.
Indian Pediatr
;
2016 Sept; 53(9): 829-830
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2016
Tipo de documento:
Artigo
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