2024
DOI: 10.4103/pnjb.pnjb_11_23
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Fanconi-Bickel Syndrome: A Rare Etiology of Hypophosphatemic Rickets

Quddus Miah,
Kanij Fatema,
Farah Naz Dola
et al.

Abstract: Fanconi-Bickel syndrome (FBS) is a rare type of glycogen storage disease (GSD). Usual presentations of this condition are hepatomegaly, nephropathy, postprandial hyperglycemia, fasting hypoglycemia, developmental delay and growth retardation. An investigation shows rachitic changes with calcinuria, phosphaturia, glycosuria, and metabolic acidosis. Liver biopsy shows features of GSD and whole exome sequencing shows solute carrier family 2, facilitated glucose transporter member 1 gene mutation which encodes glu… Show more

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