Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutationReportar como inadecuado




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BMC Research Notes

, 9:387

Case Reports

Abstract

BackgroundFanconi-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 presentationWe 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.

ConclusionThis 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

KeywordsFBS Hepatomegaly Rickets Short stature Hypoglycemia AbbreviationsFBSFanconi-Bickel syndrome

GLUT2glucose transporter 2

FTTfailure to thrive





Autor: Imad Mohammad Dweikat - Issa Shaher Alawneh - Sami Fares Bahar - Mutaz Idrees Sultan

Fuente: https://link.springer.com/



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