Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights
Mihout, Fabrice ; Devuyst, Olivier ; Bensman, Albert ; Brocheriou, Isabelle ; Ridel, Christophe ; Wagner, Carsten A. ; Mohebbi, Nilufar ; Boffa, Jean-Jacques ; Plaisier, Emmanuelle ; Ronco, Pierre
In: Nephrology Dialysis Transplantation, 2014, vol. 29, p. iv113-iv116
Ajouter à la liste personnelle- Summary
- 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