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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 7 of 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 [ABSTRACT FROM AUTHOR]

ABSTRACT This study aims to investigate the clinical, biochemical, and genetic characteristics of Fanconi‐Bickel syndrome (FBS) in a cohort of 20 individuals from Palestine and to identify novel pathogenic variants. A retrospective analysis was conducted on medical records from Al‐Makassed Hospital's pediatric department spanning 2015 to 2023. Individuals diagnosed with FBS via molecular genetic testing were included in the study. Among the 20 genetically confirmed FBS patients, hepatomegaly was prevalent in 95%, whereas 70% exhibited both developmental delay and hypophosphatemic rickets, and 68.4% experienced growth retardation. Hypertriglyceridemia (HTG) was universal. Elevated liver enzymes and alkaline phosphatase were common, along with hypophosphatemia (95%) and urinary abnormalities. Genetic analysis revealed five distinct SLC2A2 pathogenic variants, including three previously unreported variants: p.Gln23Arg (c.68A > G), p.Thr353Arg (c.1058_1059delinsGG), and an exon 7 deletion. This study presents the largest single‐center cohort of FBS patients, expanding our understanding of the disorder's phenotypic and genotypic spectrum. Despite FBS generally carrying a favorable prognosis, timely diagnosis remains crucial to prevent severe complications. [ABSTRACT FROM AUTHOR]

Background: Underweight children admitted to the pediatric intensive care unit (PICU) have a higher risk of mortality than normal-weight children. The authors hypothesized that subjective global nutrition assessment (SGNA) could identify malnutrition in the PICU and predict nutrition-associated morbidities., Methods: The authors prospectively evaluated the nutrition status of 150 children (aged 31 days to 5 years) admitted to the PICU with the use of SGNA and commonly used objective anthropometric and laboratory measurements. Each child was administered the SGNA by a dietitian while anthropometric measurements were performed by an independent assessor. To test interrater reproducibility, 76 children had SGNA performed by another dietitian. Occurrence of nutrition-associated complications was documented for 30 days after admission., Results: SGNA ratings of well nourished, moderately malnourished, or severely malnourished demonstrated moderate to strong correlation with several standard anthropometric measurements (P < .05). The laboratory markers did not demonstrate any correlation with SGNA. Interrater agreement showed moderate reliability (κ = 0.671). Length of stay, pediatric logistic organ dysfunction, and Pediatric Risk of Mortality III were not significantly different across the groups and did not correlate with SGNA.