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Rev Med Suisse ; 9(378): 636-40, 2013 Mar 20.
Article in French | MEDLINE | ID: mdl-23547366

ABSTRACT

The occurrence of glucosuria in the absence of hyperglycemia is distinctive for renal glucosuria. SGLT2 mutations provoke familial renal glucosuria characterized by persistent glucosuria in the absence of any other renal tubular dysfunction. Renal glucosuria associated with others proximal tubular dysfunctions points to Fanconi syndrome. This generalized dysfunction of proximal tubule needs to be treated and may progress regarding its aetiology to chronic renal failure. The development and study of models of Fanconi syndrome has recently contributed to a better knowledge of the mechanisms implicated in the tubular transport of glucose and low-molecular-weight-proteins. This article reviews these recent developments.


Subject(s)
Fanconi Syndrome/physiopathology , Glycosuria, Renal/physiopathology , Sodium-Glucose Transporter 2/genetics , Adult , Biological Transport , Fanconi Syndrome/diagnosis , Female , Glucose/metabolism , Glycosuria, Renal/etiology , Glycosuria, Renal/genetics , Humans , Infant , Kidney Tubules, Proximal/metabolism , Male , Mutation
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