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新生儿糖尿病的遗传学特征及诊疗进展 被引量：6

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摘要 新生儿糖尿病（NDM）以严重的代谢紊乱为表现，是一组异质性的单基因遗传病。本文就NDM的临床特征进行概述，并回顾该病的遗传学基础，以及基于遗传学改变的诊疗进展。
作者 任倩 纪立农
机构地区 北京大学人民医院内分泌科
出处 《中国糖尿病杂志》 CAS CSCD 北大核心 2009年第9期711-712,共2页 Chinese Journal of Diabetes
关键词 新生儿糖尿病 遗传学 基因
分类号 R722.1 [医药卫生—儿科]
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参考文献19

  • 1Shield JP, Gardner RJ, Wadsworth EJ, et al. Aetiopathology and genetic basis of neonatal diabetes. Arch Dis Child Fetal Neonatal Ed, 1997, 76: F39-42.
  • 2Flanagan SE, Patch AM, Mackay DJG. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes, 2007, 56.. 1930-1937.
  • 3Mackay DJG, Hahnemann JMD, Boonen SE,et al. Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome cen tromeric locus in individuals with transient neonatal diabetes mellitus. Hum Genet, 2006, 119; 179-184.
  • 4Polak M, Dechaume A, Cave H, et al. Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group. Diabetes, 2008, 57..1115-1119.
  • 5Edghill EL, Flanagan SE, Patch AM, et al. Insulin mutation screening in 1,044 patients with diabetes:mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes, 2008, 57:1034-1042.
  • 6Colombo C, Porzio O, Liu M, et al. Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset dia- betes mellitus. J Clin Invest, 2008, 118..2148-2156.
  • 7Njolstad PR, Sovik O, Cuesta-Munoz A, et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med, 2001, 344: 1588-1592.
  • 8Stoffers DA, Zinkin NT, Stanojevic V, et al. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet, 1997, 15:106-110.
  • 9Satake N, Nakanisbi M, Okano M, et al. A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy. Eur J Pediatr, 1993, 152..313-315.
  • 10Yoo HW, Shin YL, Seo EJ, et al. Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia. EurJ Pediatr, 2002, 161: 351-353.

同被引文献98

  • 1张恒梅,李翔.新生儿应激性高血糖的诊断及处理[J].中国现代药物应用,2007,1(5):44-45. 被引量：3
  • 2张英从,张庆云,曹蕾,张俊莲,杜彦肖.新生儿医源性高血糖的相关因素分析[J].中国全科医学,2004,7(12):889-890. 被引量：3
  • 3郭海平,张新萍,周丽华.药物导致血糖异常不良反应文献综述[J].天津药学,2005,17(6):59-61. 被引量：4
  • 4杨广声,娄素琴,钱东丽.抗精神病药引起血糖升高相关因素分析[J].中国医院药学杂志,2006,26(2):191-192. 被引量：3
  • 5Hamilton - Shield JP. Overview of neonatal diabetes [ J ]. Endocr Dev, 2007,12 : 12 - 13.
  • 6Letha S, Mammen D, Valamparampil JJ. Permanent neonatal diabetes due to KCNJ11 gene mutation [ J ]. Indian J Paediatr, 2007,74 ( 10 ) : 947 - 949.
  • 7Tammaro P, Girard C, Molnes J, et al. Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2 -SUR1 interactions[ J]. EM- BO J,2005,24 ( 13 ) :2318 - 2330.
  • 8Flanagan SE, Edghill EL, Gloyn AL, et al. Mutations in KCNJI 1, which encodes Kit6.2 ,are a common cause of diabetes diagnosed in the first 6 months of life,with the phenotype determined by genotype[ J]. Diabeto- logia,2006,49 (6) : 1190 - 1197.
  • 9Klupa T, Skupien J, Mirkiewicz - Sieradzka B, et al. Efficacy and safety of sulfonylurea use in permanent neonatal diabetes due to KCNJ11 genc mutations : 34 - month median follow - up [ J ]. Diabetes Technol Ther, 2010,12(5) :387 -391.
  • 10Kim MS, Kim SY, Kim GH,et al. Suffonylurea therapy in two Korean pa- tients with insulin - treated neonatal diabetes due to heterozygous muta- tions of the KCNJ11 gene encoding Kit6. 2 [ J]. J Korean Med Sci, 2007,22(4) :616 -620.

引证文献6

二级引证文献13

中国糖尿病杂志
2009年 第9期

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