KEGG   DISEASE: Familial renal glucosuria
Entry
H01126                      Disease                                

Name
Familial renal glucosuria
Description
Familial renal glucosuria (FRG) is a rare autosomal recessive disorder of the kidney characterized by decreased renal tubular resorption of glucose from the urine in the absence of hyperglycemia and any other signs of tubular dysfunction. The vast majority of affected individuals are asymptomatic, but there is a rare propensity to develop hypoglycemia and hypovolemia. FRG is associated with mutations in the SGLT2 gene.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H01126  Familial renal glucosuria
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C61  Disorders of carbohydrate absorption or transport
     H01126  Familial renal glucosuria
Gene
SLC5A2 [HSA:6524] [KO:K14382]
Other DBs
ICD-11: 5C61.5
ICD-10: E74.8
MeSH: D006030
OMIM: 233100
Reference
  Authors
Patel AK, Fonseca V
  Title
Turning glucosuria into a therapy: Efficacy and safety with SGLT2 inhibitors.
  Journal
Curr Diab Rep 10:101-7 (2010)
DOI:10.1007/s11892-010-0095-5
Reference
  Authors
Santer R, Calado J
  Title
Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.
  Journal
Clin J Am Soc Nephrol 5:133-41 (2010)
DOI:10.2215/CJN.04010609
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