Background: FanconiBickel syndrome (FBS) is a rare autosomal recessive disorder characterised by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose, rickets, and severe short stature. It has been shown to be caused by mutations in GLUT2 gene, a member of the facilitative glucose transporter family.
Results: Here, we report an Iranian family with two affected siblings. The clinical findings in the patientinclude developmental delay, failure to thrive, hepatomegaly, enlarged kidneys and rickets.
Conclusion: A novel six nucleotiddeletion (c.1061_1066del6, p.V355_S356del2) is shown to be segregated with the disease in this family.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology