KCNJ11基因突变引起的新生儿糖尿病1例

王姝彦,张龙江,何中倩,田青,李晓东

中国当代儿科杂志 ›› 2012, Vol. 14 ›› Issue (1) : 73-75.

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中国当代儿科杂志 ›› 2012, Vol. 14 ›› Issue (1) : 73-75.
病例报告

KCNJ11基因突变引起的新生儿糖尿病1例

  • 王姝彦,张龙江,何中倩,田青,李晓东
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Neonatal diabetes mellitus caused by KCNJ11 mutation: a case report

  • WANG Shu-Yan, ZHANG Long-Jiang, HE Zhong-Qian, TIAN Qing, LI Xiao-Dong
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王姝彦,张龙江,何中倩,田青,李晓东. KCNJ11基因突变引起的新生儿糖尿病1例[J]. 中国当代儿科杂志. 2012, 14(1): 73-75
WANG Shu-Yan, ZHANG Long-Jiang, HE Zhong-Qian, TIAN Qing, LI Xiao-Dong. Neonatal diabetes mellitus caused by KCNJ11 mutation: a case report[J]. Chinese Journal of Contemporary Pediatrics. 2012, 14(1): 73-75
中图分类号: R722   

参考文献

[1]Hamilton-Shield JP.Overview of neonatal diabetes[J].Endocr Dev, 2007, 12: 12-23.

[2]Turkkahraman D, Bircan I, Tribble ND, Ak-urin S, Ellard S, Gloyn AL. Permanent neonatal diabetes mellitus caused by a novel homozyous(T168A)glucokinase(GCK) mutation: initial response to oral sulphonylurea therapy[J].J Pediatr, 2008, 153(1): 122-126.

[3]Polak M, Dechaume A, Cavé H, Nimri R, Crosnier H, Sulmont V, et al. Heterozygous missense mutations in the insulin gene are linked to petmanent diabetes appearing in the neonatal period or in early infancy:a report from the French ND(Neonatal Diabetes)Study Group[J].Diabetes, 2008, 57(4): 1115-1119.

[4]Cavé H, Polak M, Drunat S, Denamur E, Czernichow P.Refinement of the 6q chromosomal region implicated in transient neonatal diabetes[J]. Diabetes, 2000, 49(1): 108-113.

[5]Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, Robinson D, et al. Mutation in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adultdhood[J].Diabetes, 2007, 56(7): 1930-1937.

[6]De León DD, Stanley CA. Permanent neonatal diabetes mellitus[DB/OL].[2008-02-08].http://www.ncbi.nlm.nim.gov/books/NBK1447/

[7]Henquin JC. Pathways in beta-cell stimulus-secretion coupling as targets for therapeutic insulin secretagogues[J].Diabetes, 2004, 53(Suppl 3): S48-S58.

[8]Proks P, Girard C, Haider S, Gloyn AL, Hattersley AT, Sansom MS, et al. A gating mutation at the internal mouth of the Kir 6.2 pore is associated with DEND syndrome[J].EMBO Rep, 2005, 6(5): 470-475.

 [9]Gloyn AL, Diatloff-Zito C, Edghill EL, Bellanné-Chantelot C, Nivot S, Coutant R, et al. KCNJ11 activating mutation are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features[J].Eur J Hum Genet, 2006, 14(7): 824-830.

[10]Slingerland AS, Hurkx W, Noordam K, Flanagan SE, Jukema JW, Meiners LC, et al. Sulphonylurea therapy improve cognition in a patient with the V59M KCNJ11 mutation[J]. Diabet Med, 2008, 25(3): 277-281.

[11]Hattersley AT, Ashcroft FM. Activating mutations in Kir 6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy[J]. Diabetes, 2005, 54(9): 2503-2513.

[12]Pearson ER, Flechtner I, Nj-lstad PR, Malecki MT, Flanagan SE, Larkin B, et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir 6.2 mutations[J]. N Engl J Med, 2006, 355(5): 467-477.

[13]Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, 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 chilidhood or adulthood[J].Diabetes, 2008, 57(4): 1034-1042.

[14]Turkkahraman D, Bircan I, Tribble ND, Akcurin S, Ellard S, Gloyn AL. Permanent neonatal diabetes mellitus caused by a novel hemozygous(T168A) glucokinase(GCK) mutation:initial response to oral sulphonylurea therapy[J]. J Pediatr, 2008, 153(1): 122-126.

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