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

Abstract

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.

• Authors: Fabrice Mihout, Olivier Devuyst, Albert Bensman, Isabelle Brocheriou, Christophe Ridel, Carsten A Wagner, Nilufar Mohebbi, Jean-Jacques Boffa, Emmanuelle Plaisier, Pierre Ronco
• Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (Nephrol Dial Transplant) Vol. 29 Suppl 4 Pg. iv113-6 (Sep 2014) ISSN: 1460-2385 [Electronic] England
• PMID: 25165176 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © The Author 2014. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

Chemical References

• Glucose Transporter Type 2
• SLC2A2 protein, human

Topics

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