title: Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Pediatric Department, Faculty of Medicine and Health Sciences, An-Najah National University, P.O.Box 7, 44839, Nablus, Palestine, Israel. i.dweikat@najah.edu.
authors.forename: Imad Mohammad
authors.initials: IM
authors.lastname: Dweikat
authors.affiliation: Pediatric Department, Faculty of Medicine and Health Sciences, An-Najah National University, P.O.Box 7, 44839, Nablus, Palestine, Israel.
authors.forename: Issa Shaher
authors.initials: IS
authors.lastname: Alawneh
authors.affiliation: Pediatric Department, Faculty of Medicine and Health Sciences, An-Najah National University, P.O.Box 7, 44839, Nablus, Palestine, Israel.
authors.forename: Sami Fares
authors.initials: SF
authors.lastname: Bahar
authors.affiliation: Pediatric Department, Makassed Hospital, Mount of Olives, P.O.Box 19482, Jerusalem, Palestine, Israel.
authors.forename: Mutaz Idrees
authors.initials: MI
authors.lastname: Sultan
mesh_terms: D002648:Child; D005198:Fanconi Syndrome / Q000235:genetics* / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006760:Hospitalization; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008877:Middle East; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
keywords: FBS; Hepatomegaly; Hypoglycemia; Rickets; Short stature