First case of Fanconi-Bickel syndrome genetically diagnosed in Sri Lanka

Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive carbohydrate metabolism disorder caused by mutations in SLC2A2 encoding the glucose transporter 2 (GLUT2) protein. The clinical manifestations include hepatomegaly, conditional hypo/hyperglycemia, rickets, short stature and proximal renal tubular dysfunction. GLUT2 regulates monosaccharide homeostasis through sugar sensing and transmembrane transportation during high/low glucose levels. In the current study, we present two siblings suffering from FBS. The patients presented with doll-like facies, failure to gain weight and height, abdominal distension and firm hepatomegaly. The family had a history of deaths of twin male siblings in the neonatal period and twin female siblings at ages 10 months and 2.5 years, respectively. Clinical presentation and biochemical investigations including a complete blood count, electrolytes, liver and renal function tests suggested FBS. Mutation screening of SLC2A2 confirmed the diagnosis with identification of a novel homozygous splice site variant predicting an in-frame deletion [p.(Gly166-S169del)] in the GLUT2 protein. The in-silico analysis predicted the variant to affect the three-dimensional conformation of the fourth transmembrane helix of the encoded protein, rendering the non-functionality of GLUT2 in both patients of the family under study.

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Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant

Batool

Zubaida

Hashmi

et al. 2019

Journal of Pediatric Endocrinology and Metabolism

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Fanconi-Bickel Syndrome: A Rare Etiology of Hypophosphatemic Rickets

Miah,

Fatema,

Dola

et al. 2024

PNJB

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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 glucose transporter (GLUT2). In this study, we present the case of a child who had presented with abdominal distention and rachitic changes and finally diagnosed as FBS. This case report aims to show that hepatomegaly with rachitic features may reveal a rare diagnosis of FBS.

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First case of Fanconi-Bickel syndrome genetically diagnosed in Sri Lanka

Cited by 2 publications

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Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant

Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant

Fanconi-Bickel Syndrome: A Rare Etiology of Hypophosphatemic Rickets

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