Art

J-GLOBAL ID：202002264870315190   Reference number：20A0946783

診断・治療可能な遺伝性疾患を見逃さないために VIII.内分泌疾患 1.家族性若年発症糖尿病(MODY)

Author (1)： YORIFUJI TOORU (大阪市総合医療セ 小児代謝・内分泌内科)
Material： 小児科臨床  (Japanese Journal of Pediatrics)
Volume： 73  Issue： 5  Page： 791-794  Publication year： May. 05, 2020 
JST Material Number： Z0641A  ISSN： 0021-518X  Document type： Article
Article type： 解説  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： human ,...
Semi thesaurus term： infantile disease ,...

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JST classification (4)： Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Endocrine diseases  (GL03000I) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Pediatrics in general.  (GC08010B)

Reference (15)：

• Fajans SS, Bell GI : MODY : history, genetics, pathophysiology, and clinical decision making. Diabetes Care 2011 ; 34 : 1878-1884.
• Laver T, Wakeling M, Knox O, et al.: Redefining the pathogenicity of Maturity Onset Diabetes of the Young (MODY) genes : BLK, PAX4 and KLF11 do not cause MODY. Diabetic Med 2018 ; 35 ; 10.
• Hattersley AT, Greeley SAW, Polak M, et al. : ISPAD Clinical Practice Consensus Guidelines 2018 : The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 2018 ; Suppl 27 : 47-63.
• Wright CF, West B, Tuke M, et al. : Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. Am J Hum Genet 2019 ; 104 : 275-286.
• Chakera AJ, Steele AM, Gloyn AL, et al. : Recognition and management of individuals with hyperglycemia because of a heterozygous glucokinase mutation. Diabetes Care 2015 ; 38 : 1383-1392.

Terms in the title (7)： 診断 ,  治療 ,  遺伝性疾患 ,  内分泌疾患 ,  家族 ,  若年発症糖尿病 ,  MODY