Familial renal glucosuria

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Familial renal glucosuria

Synonyms: Familial renal glycosuria | SGLT2 deficiency

A rare genetic glucose transport disorder characterized by the presence of persistent isolated glucosuria in the absence of both proximal tubular dysfunction and hyperglycemia. The disorder is benign in the majority of cases although it may occasionally manifest with polyuria enuresis a mild growth and pubertal maturation delay hypercalciuria aminoaciduria and in severe cases increased incidence of urinary infections and episodic dehydration and ketosis during pregnancy and starvation.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

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Familial renal glucosuria?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.