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

作者：Mihout Fabrice; Devuyst Olivier; Bensman Albert; Brocheriou Isabelle; Ridel Christophe; Wagner Carsten A; Mohebbi Nilufar; Boffa Jean Jacques; Plaisier Emmanuelle; Ronco Pierre^*

来源：Nephrology Dialysis Transplantation, 2014, 29(suppl 4): 113-116.

DOI：10.1093/ndt/gfu018

• Fanconi-Bickel
• ketosic acidosis
• metabolic acidosis
• proximal tubular nephropathy
• SLC12A2

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 dysrenal 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.

• 出版日期2014-9