Article
Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation.
Indian pediatrics - 8 Sept 2016
Shah Ruchi, Rao Sudha, Parikh Ruchi, Sophia Tahir, Khalid Hussain
Abstract excerpt
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:...
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