FANCONI BICKEL SYNDROME – A RARE ENTITY IN A BANGLADESHI CHILD
Sharmistha Ghosal*, Nazmul Hassan, Bodhrun Naher, Subrata Roy and Fahmida Begum
Fanconi-Bickel syndrome (FBS) is a rare inherited glycogen storage disease (GSD), caused by defects in facilitative Glucose Transporter (GLUT2) gene that codes for the glucose transporter protein 2 expressed in hepatocytes, pancreatic beta cells, enterocytes, and renal tubular cells. The clinical picture is characterized by glycogen accumulation in liver and kidney resulting in hepatomegaly and renomegaly, fasting hypoglycemia and post prandial hyperglycemia, proximal renal tubular acidosis, hypophosphatemic rickets, and short stature. In this article we present a case of Fanconi-Bickel syndrome and its management who initially presented with short stature, hepatomegaly and hypophosphatemic rickets.
Keywords: Fanconi Bickel syndrome, Hypophosphatemic rickets, Renal tubular acidosis.
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