Article
Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Dec 2008
Calado Joaquim, Sznajer Yves, Metzger Daniel, Rita Ana, Hogan Marie C, Kattamis Antonis, Scharf Mauro, Tasic Velibor, Greil Johann, Brinkert Florian, Kemper Markus J, Santer René
Abstract excerpt
INTRODUCTION: Familial renal glucosuria (FRG) is a rare renal tubular disorder caused by mutations within the SLC5A2 gene. It is characterized by persistent glucosuria in the absence of hyperglycaemia and any other signs of generalized tubular dysfunction. In small series of patients previously reported, the molecular and phenotypic findings in FRG families, including first hints of extracellular volume depletion...
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