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Published on: June 20, 2018
Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation
Ruchi Shah1, Sudha Rao, Ruchi Parikh
1Division of Pediatric Endocrinology, Department of Pediatrics, Bai Jerbai Wadia Hospital for Children, Mumbai, India; *Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, UK; and Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom. Correspondence to: Dr Sudha Rao, D 103, Tycoons Residency, Club Road, Opp. KDMC Ward B Office, Kalyan (West), Thane, India. c_sudha@hotmail.com.
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.
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