Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights

Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv113-6. doi: 10.1093/ndt/gfu018.


Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by mutations in the SLC2A2 gene coding for the glucose transporter protein 2 (GLUT2). Major manifestations include hepatomegaly, glucose intolerance, post-prandial hypoglycaemia and renal disease that usually presents as proximal tubular acidosis associated with proximal tubule dysfunction (renal Fanconi syndrome). We report a patient harbouring a homozygous mutation of SLC2A2 who presented a dramatic exacerbation of metabolic acidosis in the context of a viral infection, owing to both ketosis and major urinary bicarbonate loss. The kidney biopsy revealed nuclear and cytoplasmic accumulation of glycogen in proximal tubule cells, a lack of expression of GLUT2, and major defects of key proteins of the proximal tubule such as megalin, cubilin and the B2 subunit of H(+)-ATPase. These profound alterations of the transport systems most likely contributed to proximal tubule alterations and profound bicarbonate loss.

Keywords: Fanconi–Bickel; SLC12A2; ketosic acidosis; metabolic acidosis; proximal tubular nephropathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis / genetics
  • Acidosis / physiopathology*
  • Acute Disease
  • Fanconi Syndrome / genetics
  • Fanconi Syndrome / physiopathology*
  • Glucose Transporter Type 2 / deficiency
  • Glucose Transporter Type 2 / genetics*
  • Homozygote
  • Humans
  • Infant
  • Kidney Tubules, Proximal / physiopathology*
  • Male
  • Mutation / genetics*


  • Glucose Transporter Type 2
  • SLC2A2 protein, human