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- Title
Fanconi Bickel Syndrome with hypercalciuria due to GLUT 2 mutation.
- Authors
Rao, Sudha; Shah, Ruchi; Parikh, Ruchi; Sophia, Tahir; Khalid, Hussain
- 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.
- Subjects
FANCONI syndrome; HYPERCALCIUREA; GLUCOSE transporters; GENETIC mutation; DIABETES insipidus; HEPATOMEGALY; HYPOGLYCEMIA in children; HYPERGLYCEMIA
- Publication
Indian Pediatrics, 2016, Vol 53, Issue 9, p829
- ISSN
0019-6061
- Publication type
Article
- DOI
10.1007/s13312-016-0939-4