Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering.

Clinical and Experimental Nephrology
Mohammad Al-HaggarDina Abdel-Hadi

Abstract

Fanconi-Bickel syndrome (FBS) is an autosomal recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene which codes for the glucose transporter protein 2 expressed in hepatocytes and renal tubular cells causing a defect in carbohydrate metabolism, hepatomegaly, severe hypophosphatemic rickets and failure to thrive. Among 17 unrelated Egyptian families with heritable renal tubular acidosis, three families clinically suspected as FBS were enrolled for this study after providing written informed consent. The three families had positive consanguinity and index cases with characteristic clinical features of FBS (hepatorenal glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy). Laboratory work-up included urinalysis, renal and liver function tests, fasting and postprandial blood sugar, serum calcium, phosphorus, alkaline phosphatase, sodium and potassium, lipid profile and arterial blood gas analysis. Imaging studies included bone survey and abdominal ultrasound. Liver biopsy was performed to confirm pathological diagnosis of the liver enlargement. Molecular analysis was performed for all family members-polymerase chain reacti...Continue Reading

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Citations

Dec 29, 2012·Journal of Genetics·Zohreh KaramizadehMajid Fardaee
Oct 16, 2016·Indian Journal of Pediatrics·Moirangthem AmitaShubha R Phadke
Apr 2, 2016·Endocrine Reviews·Yisheng Yang, Lawrence Chan
Apr 7, 2017·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Jennifer PogorilerAntonio R Perez-Atayde
Sep 4, 2020·International Journal of Molecular Sciences·Sanaa SharariFaiyaz Ahmad Khan

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