Article
Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Sept 2014
Mihout Fabrice, Devuyst Olivier, Bensman Albert, Brocheriou Isabelle, Ridel Christophe, Wagner Carsten A, Mohebbi Nilufar, Boffa Jean-Jacques, Plaisier Emmanuelle, Ronco Pierre
Abstract excerpt
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...
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