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Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation

Overview of attention for article published in BMC Research Notes, August 2016
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Title
Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation
Published in
BMC Research Notes, August 2016
DOI 10.1186/s13104-016-2184-2
Pubmed ID
Authors

Imad Mohammad Dweikat, Issa Shaher Alawneh, Sami Fares Bahar, Mutaz Idrees Sultan

Abstract

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. 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. 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.

Mendeley readers

The data shown below were compiled from readership statistics for 9 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 9 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 3 33%
Unspecified 2 22%
Student > Ph. D. Student 1 11%
Student > Master 1 11%
Student > Doctoral Student 1 11%
Other 1 11%
Readers by discipline Count As %
Unspecified 3 33%
Biochemistry, Genetics and Molecular Biology 3 33%
Agricultural and Biological Sciences 2 22%
Pharmacology, Toxicology and Pharmaceutical Science 1 11%