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3例青少年发病的成人型糖尿病病例报道及文献复习

Three cases of maturity onset diabetes of the young and literature review
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摘要 青少年发病的成人型糖尿病(maturity onset diabetes of the young,MODY)是一种由单个基因突变导致的特殊类型糖尿病。其特征性表现为:发病年龄早;常染色体显性遗传;至少5年内不依赖胰岛素治疗,无酮症倾向。迄今为止已发现14种基因与MODY有关,其中HNF1α-MODY较为常见,笔者在此报道3例南京鼓楼医院内分泌科确诊的具有显著临床异质性的HNF1α-MODY病例。
作者 束燕雯 顾天伟 沈山梅 毕艳 朱大龙 Shu Yanwen;Gu Tianwei;Shen Shanmei;Bi Yan;Zhu Dalong(Nanjing Drum Tower Hospital,Graduate School of Peking Union Medical College and Chinese Academy of Medical Science,Nanjing 210008,China;Department of Endocrinology,Drum Tower Hospital Affiliated to Nanjing University Medical School,Nanjing 210008,China)
机构地区 中国医学科学院 南京大学医学院附属鼓楼医院内分泌科
出处 《国际内分泌代谢杂志》 2021年第3期237-240,共4页 International Journal of Endocrinology and Metabolism
关键词 南京鼓楼医院 常染色体显性遗传 内分泌科 发病年龄 病例报道 基因突变 特征性表现 MODY
分类号 R587.1 [医药卫生—内分泌]
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二级参考文献33

  • 1Thanabalasingham G,Owen KR. Diagnosis and management ofmaturity onset diabetes of the young ( MODY). BMJ,2011,343 :d6044.
  • 2Bonnefond A,Philippe J,Durand E,et al. Whole-exome sequen-cing and high throughput genotyping identified KCNJ11 as thethirteenth MODY gene. PLoS One,2012,7 :e37423.
  • 3Steele AM, Shields BM,Shepherd M, et al. Increased all-causeand cardiovascular mortality in monogenic diabetes as a result ofmutations in the HNF1A gene. Diabet Med,2010,27 : 157-161.
  • 4Shields BM,Hicks S,Shepherd MH,et al. Maturity-onset diabetesof the young ( MODY ) : how many cases are we missing..Diabetologia ,2010,53 : 2504-2508.
  • 5Osbak KK, Colclough K, Saint-Martin C, et al. Update on muta-tions in glucokinase ( GCK),which cause maturity-onset diabetesof the young,permanent neonatal diabetes,and hyperinsulinernichypoglycemia. Hum Mutat ,2009 ,30 : 1512-1526.
  • 6Zhang J,Li C,Shi T,et al. Lysl69 of human glucokinase is a de-terminant for glucose phosphorylation ; implication for the atomicmechanism of glucokinase catalysis. PLoS One,2009 ,4 : e6304.
  • 7Cervin C, Axler 0, Holmkvist J, et al. An investigation of serumconcentration of apoM as a potential MODY3 marker using a no-vel ELISA. J Intern Med,2010,267 :316-321.
  • 8Thanabalasingham G, Shah N, Vaxillaire M,et al. A large multi-centre European study validates high-sensitivity C-reactive pro-tein (hsCRP) as a clinical biomarker for the diagnosis of diabe-tes subtypes. Diabetologia,2011,54:2801-2810.
  • 9Bowman P,Flanagan SE,Edghill EL,et al. Heterozygous ABCC8mutations are a cause of MODY. Diabetologia, 2012, 55:123-127.
  • 10Fajans SS, Bell Gl’Paz VP, et al. Obesity and hyperinsulinemiain a family with pancreatic agenesis and MODY caused by theIPF1 mutation Pro63fsX60. Transl Res,2010,156:7-14.

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国际内分泌代谢杂志
2021年 第3期

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