The Fanconi-Bickel syndrome: A case of neonatal onset

Silvia Riva, Carmela Ghisalberti, Rossella Parini, Francesca Furlan, Alberto Bettinelli, Marco Somaschini

Research output: Contribution to journalArticlepeer-review


A male newborn infant was recognized having Fanconi-Bickel syndrome (FBS) in the neonatal period. The presenting clinical findings were hyperglycemia and polyuria detected during an episode of acute enteritis. Physical examination was normal, biochemical analyses were suggestive of FBS: glycosuria, proteinuria, phosphaturia, generalized aminoaciduria, and increased levels of urinary β2-microglobulin, serum glucose and serum alkaline phosphatase. The molecular genetic analysis showed homozygosity for mutations within the gene of the glucose transporter 2 (Glut 2), 1213 C>T. The patient demonstrated improved clinical and metabolic status following institution of diet with frequent small meals and galactose-free milk as well as pharmacological treatment with phosphate and vitamin α-OH-D3. In conclusion, infants showing hyperglycemia and polyuria may be considered having FBS also in the neonatal period. Early institution of adequate caloric intake and replacement of electrolytes and vitamin D may avoid or reduce metabolic complications.

Original languageEnglish
Pages (from-to)322-323
Number of pages2
JournalJournal of Perinatology
Issue number5
Publication statusPublished - May 2004

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Pediatrics, Perinatology, and Child Health


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