胰岛β细胞基因突变致低血糖伴高血糖综合征的临床识别及处理
摘要
自1981年Aynsley-Gren等首次报道PHHI以来,后续学者对其遗传背景做了大量和深入的研究,清楚一些,还有相当一些还不算清楚。PHHI至今还是一种极少见的遗传性疾病,使胰岛β细胞持续不适当分泌胰岛素是PHHI的病理生理基础。
出处
《实用糖尿病杂志》
2016年第4期9-11,共3页
Journal of Practical Diabetology
参考文献15
-
1Aynsley-Green A, Polak JM, Bloom SR,et al. Nesidioblustosisof the pancresas : definition of the syndrome and the management of thesevere neonatal hyperinsulinaemic hypoglycemia. Arch Dis child1981;56;496-508.
-
2Inagari N, et al. Reconstitution of IKATP : an inward rectifiersubunitplus the sulfonylurea receptor. Seience 1995;270:1166-1170.
-
3Dukes ID, Pkilipson LH, Ktchannels : generating excitemeat inpancreatic p-cells. Diabetes 1996 ;45 : 845-853.
-
4Alminnd K,Doria A,Kahn CR,Putting the genes for type IIdiabetes on the map. Nat Mat 2001 ;7 : 277-279.
-
5Aguilar-Biyan L,Nichols CG, Wechsler SN,et al. Cloning ofthe beta cell high-affmity sulfonylurea receptor: a regulator of insulinsecretion. Science 1995 ;268 :423-426.
-
6Inagaki N,Gonoit,Clement JP(4 tb),et al. Reoonstitution ofIKatp : an inward rectifier subunit plus the sulforylurea receptor. Sci-ence 1995;270:1166-1170.
-
7Matschinky F, Liang Y, Kesavan P, et al. Glucokinease asPancretic p-cell glucose seneor and diabetes gene. J Clin Invest1993;92:2092-2098.
-
8Antonio L,Cuesta-Mufioz,Hanna,Hanna H,et al. Severe Per-sistent Hyperinsulinemic hypoglycemia due to a De Novo Gluco KinaseMatation. Diabetes 2004;53:2164-2168.
-
9Thomas PM,et al. Mutations in the sulfonylurea receptor genein familial hyperinsulinemic hypoglycemia of infancy. Science 1995 ;268:426-429.
-
10Heitz PU, Kloppel G, Hacki WH, et al. Nosiolioblastosis: thepathologic basis of persistent hyperinsulinemic hypoglycemia in in-fants. morphlogic and quantitative analysis of seven casesbased on spe-cific inmunostaning and electron microscopy. Diabetes 1997 ;26:632-642.
二级参考文献27
-
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.
共引文献5
-
1于晓华,刘国良.伴糖尿病的遗传综合征与甲状腺疾病[J].实用糖尿病杂志,2016,12(6):8-10. 被引量:1
-
2任惠珠,刘国良.青少年的成人起病型糖尿病(MODY)的研究、认识现状及处理[J].实用糖尿病杂志,2017,13(1):4-5. 被引量:2
-
3孙俊英,沈晓明.伴听力下降的青少年发病的成人型糖尿病1例并文献复习[J].中国乡村医药,2020,27(24):41-41.
-
4束燕雯,顾天伟,沈山梅,毕艳,朱大龙.3例青少年发病的成人型糖尿病病例报道及文献复习[J].国际内分泌代谢杂志,2021,41(3):237-240.
-
5陈文杰.青少年发病的成人型糖尿病姐妹患者二例[J].海南医学,2016,27(6):1021-1021. 被引量:1
-
1吕春阳,姜玉环,张进红.低血糖症所致严重不良事件的临床分析[J].当代医学,2011,17(1):57-57. 被引量:5
-
2王华.葡萄糖激酶基因与糖尿病[J].国外医学(内分泌学分册),1994,14(2):66-69.
-
3班博,王华,何戎华.葡萄糖激酶基因与2型糖尿病[J].临床内科杂志,1999,16(6):299-300. 被引量:2
-
4丁鹤林,傅祖植.年青人的成年发病型糖尿病(MODY)——非胰岛素依赖型糖尿病的一种亚型[J].国外医学(内科学分册),1993,20(9):389-391. 被引量:1
-
5王玢,郭锡熔,陈荣华.钙——肥胖的重要调节者[J].医学综述,2005,11(4):300-302. 被引量:1
-
6钱荣立,项坤三.年青的成年发病型糖尿病[J].中国糖尿病杂志,1994,2(4):231-234. 被引量:1
-
7项坤三,吴松华,郑泰山,孙多奇,王延庆,蒲鎏.常见型非胰岛素依赖型糖尿病患者的葡萄糖激酶基因分子扫查[J].中国糖尿病杂志,1995,3(1):3-7. 被引量:10
-
8吴松华,项坤三.国内糖尿病分子遗传学研究的现状和发展[J].中国糖尿病杂志,1994,2(4):237-239. 被引量:1
-
9杨治芳.糖尿病的新认识:重在防治心脑血管病[J].家庭医学(上半月),2003,18(11):57-57.
-
10班博,王华,何戎华,马立隽,金卫新.葡萄糖激酶基因与中国人2型糖尿病的相关性研究[J].江苏医药,1999,25(9):667-669.