Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by impaired glucose and galactose utilization as well as proximal renal tubular dysfunction. In this study clinical, biochemical, genetic, treatment, and follow-up data for 11 pediatric patients with FBS are retrospectively analysed.
Treatment interventions, including uncooked cornstarch and conventional rickets therapy, are leading to the remission of hepatomegaly and significant improvements in health markers. Genetic analysis is revealing 14 variants of the SLC2A2 gene, including six novel ones, providing insights into potential genetic links. Patients with specific genetic variations are displaying varying degrees of metabolic acidosis.The study is also uncovering intriguing findings in nonconsanguineous families, where rare homozygous variations are associated with regions of homozygosity, suggesting a potential mechanism of uniparental disomy 3.
In conclusion, the researchers emphasize the ongoing challenge of early Fanconi-Bickel syndrome diagnosis due to diverse initial symptoms. They caution against using recombinant human growth hormone for patients with normal growth hormone stimulation tests and suggest alkali supplementation for those with specific genetic variations linked to urine bicarbonate loss. The ongoing discovery of regions of homozygosity is providing valuable insights into the mechanisms behind rare homozygous variants in nonconsanguineous families. Read the full article here.