KEGG   DISEASE: 腎性糖尿
エントリ  
H01126                                                             
名称    
腎性糖尿
概要    
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.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   代謝物質の吸収または輸送の疾患
    5C61  糖質の吸収または輸送の疾患
     H01126  腎性糖尿
病因遺伝子 
SLC5A2 [HSA:6524] [KO:K14382]
リンク   
ICD-11: 5C61.5
MeSH: D006030
OMIM: 233100
文献    
  著者
Patel AK, Fonseca V
  タイトル
Turning glucosuria into a therapy: Efficacy and safety with SGLT2 inhibitors.
  雑誌
Curr Diab Rep 10:101-7 (2010)
DOI:10.1007/s11892-010-0095-5
文献    
  著者
Santer R, Calado J
  タイトル
Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.
  雑誌
Clin J Am Soc Nephrol 5:133-41 (2010)
DOI:10.2215/CJN.04010609
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