[1]黄春玲 韩彤妍.ABCC8基因突变致先天性高胰岛素血症性低血糖1例 并文献复习[J].国际内分泌代谢杂志,2019,39(01):65-67.[doi:10.3760/cma.j.issn.1673-4157.2019.01.016]
 Huang Chunling,Han Tongyan.ABCC8 mutations cause congenital hyperinsulinism hypoglycemia: a case report and review of literature[J].International Journal of Endocrinology and Metabolism,2019,39(01):65-67.[doi:10.3760/cma.j.issn.1673-4157.2019.01.016]
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ABCC8基因突变致先天性高胰岛素血症性低血糖1例 并文献复习()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
39
期数:
2019年01期
页码:
65-67
栏目:
病例报告
出版日期:
2019-01-20

文章信息/Info

Title:
ABCC8 mutations cause congenital hyperinsulinism hypoglycemia: a case report and review of literature
作者:
黄春玲 韩彤妍
北京大学第三医院儿科 100191
Author(s):
Huang Chunling Han Tongyan
Department of Paediatrics, Peking University Third Hospital, Beijing 100191, China
DOI:
10.3760/cma.j.issn.1673-4157.2019.01.016

参考文献/References:

[1] Glaser B.Hyperinsulinism of the newborn[J].Semin Perinatol,2000,24(2):150-163.
[2] Kapoor RR,James C,Hussain K.Advances in the diagnosis and management of hyperinsulinemic hypoglycemia[J].Nat Clin Pract Endocrinol Metab,2009,5(2):101-112.DOI:10.1038/ncpendmet1046.
[3] Arnoux JB,Verkarre V,Saint-Martin C,et al.Congenital hyperinsulinism: current trends in diagnosis and therapy[J].Orphanet J Rare Dis,2011,6:63.DOI:10.1186/1750-1172-6-63.
[4] Mohamed Z,Arya VB,Hussain K.Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management[J].J Clin Res Pediatr Endocrinol,2012,4(4):169-181.DOI:10.4274/jcrpe.821.
[5] Üstün NU,Dilli D,Kundak AA,et al.A novel mutation in ABCC8 gene in a newborn with congenital hyperinsulinism-a case report[J].Fetal Pediatr Pathol,2013,32(6):412-417. DOI:10.3109/15513815.2013.789947.
[6] Dillon PA.Congenital hyperinsulinism[J].Curr Opin Pediatr,2013,25(3):357-361.DOI:10.1097/MOP.0b013e3283600ebb.
[7] Ferrara C,Patel P,Becker S,et al.Biomarkers of insulin for the diagnosis of hyperinsulinemic hypoglycemia in infants and children[J].J Pediatr,2016,168:212-219.DOI:10.1016/j.jpeds.2015.09.045.
[8] Marquard J,Palladino AA,Stanley CA,et al.Rare forms of congenital hyperinsulinism[J].Semin Pediatr Surg,2011,20(1):38-44.DOI:10.1053/j.sempedsurg.2010.10.006.
[9] Kapoor RR,Flanagan SE,James C,et al.Hyperinsulinaemic hypoglycaemia[J].Arch Dis Child,2009,94(6):450-457.DOI:10.1136/adc.2008.148171.
[10] Pinney SE,MacMullen C,Becker S,et al.Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations[J].J Clin Invest,2008,118(8):2877-2886.DOI:10.1172/JCI35414.
[11] Bellanné-Chantelot C,Saint-Martin C,Ribeiro MJ,et al.ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism[J].J Med Genet,2010,47(11):752-759.DOI:10.1136/jmg.2009.075416.
[12] Levy-Shraga Y,Pinhas-Hamiel O,Kraus-Houminer E,et al.Cognitive and developmental outcome of conservatively treated children with congenital hyperinsulinism[J].J Pediatr Endocrinol Metab,2013,26(3-4):301-308.DOI:10.1515/jpem-2012-0289.
[13] Rahman SA,Nessa A,Hussain K.Molecular mechanisms of congenital hyperinsulinism[J].J Mol Endocrinol,2015,54(2):R119-R129.DOI:10.1530/JME-15-0016.
[14] Mohnike K,Wieland I,Barthlen W,et al.Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism[J].Horm Res Paediatr,2014,81(3):156-168.DOI:10.1159/000356905.
[15] Kapoor RR,Flanagan SE,James CT,et al.Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations[J].Diabetologia,2011,54(10):2575-2583.DOI:10.1007/s00125-011-2207-4.
[16] 杨琳,杨晓燕,石晶,等.新生儿先天性高胰岛素血症1例报告并文献复习[J].临床儿科杂志,2016,34(3):188-191.DOI:10.3969 j.issn.1000-3606.2016.03.008.
[17] 苏畅,巩纯秀.新生儿先天性高胰岛素血症15例临床分析[J].中国实用儿科杂志,2010,25(12):940-942.

备注/Memo

备注/Memo:
通信作者:韩彤妍,Email:springhh@aliyun.com
更新日期/Last Update: 2019-01-20