Abstract
Background: Fanconi-Bickel syndrome (FBS, OMIM 227810) is a rare autosomal recessive disease caused by a deficiency
of glucose transporter 2 (GLUT2), a member of the facilitative glucose transporter family (Santer et al. J Inherit
Metab Dis 21:191–194, 1998). The typical clinical picture is characterized by hepatorenal glycogen accumulation
resulting in hepato- and nephromegaly, impaired utilization of glucose and galactose, proximal renal tubular dysfunction,
rickets and severe short stature.
Case presentation: We report 2 Palestinian patients from 2 families who were homozygous for the mutation
p.R301X (C>T) in exon 7of GLUT2 gene. Patient 1 showed clinical and laboratory improvement with age characterized
by normal growth and resolution of rickets. Patient 2 had severe phenotype characterized by progressive weight loss,
persistent metabolic acidosis, marked polyuria and clinical and laboratory findings of rickets progressing to death at
age 10 months.
Conclusion: This report further expands the clinical spectrum of FBS even with identical mutations. Other yet
unknown genetic, environmental or stochastic factors may be responsible for phenotypic variability

العنوان

published_research/2021/07/14/Fanconi-Bickel_syndrome_in_two_Palestinian_children__marked_phenotypic_variability_with_identical_mutation.pdf

الناشر

An-Najah National University

بلد الناشر

فلسطين

Indexing

Scopus

معامل التأثير

1,66

نوع المنشور

Both (Printed and Online)

المجلد

9

السنة

2016

الصفحات

5