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胰腺局灶增生型先天性高胰岛素血症一例 被引量：1

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摘要 先天性高胰岛素血症（CHI）是一种遗传异质性疾病,以低血糖状态下不恰当的胰岛素分泌为特征[1].迄今为止已发现了9种CHI致病基因,并明确了8种遗传学类型[2],ATP敏感性钾通道型先天性高胰岛素血症（KATP-CHI）为先天性高胰岛素血症最常见的类型,是由于ABCC8和KCNJ11基因的突变所导致的.根据组织学特征的不同,CHI的胰腺可分为3种组织学类型：弥散型、局灶型、非典型型.而ABCC8基因突变导致的局灶型KATP-CHI在国内少见,本文对1例ABCC8基因突变导致的局灶型KATP-CHI进行了报道,以提高儿科及内分泌医师对局灶型先天性高胰岛素血症的认识.
作者 桑艳梅 李文京 王焕民 徐子迪
机构地区 首都医科大学附属北京儿童医院内分泌遗传代谢科 首都医科大学附属北京儿童医院肿瘤科
出处 《中华糖尿病杂志》 CAS CSCD 2013年第11期705-707,共3页 CHINESE JOURNAL OF DIABETES MELLITUS
基金 北京市卫生系统高层次卫生技术人才培养计划（2011-3-051）
关键词 先天性高胰岛素血症 局灶型 胰腺 增生型 ATP敏感性钾通道 遗传异质性疾病 基因突变 致病基因
分类号 R587.1 [医药卫生—内分泌]
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参考文献9

  • 1Khalid Hussain. Insights in congenital hyperinsulinism. Endocr Dev, 2007, 11: 106-121.
  • 2Marquard I, Palladino AA, Stanley CA, et al. Rare forms of congenital hyperinsulinism. Semin Pediatr Surg,2011,20 :3844.
  • 3Bellanne-Chantelot C, Saint-Martin C, Ribeiro M J, et al. ABCC8 and KCNJll molecular spectrum of 109 patients with diazoxide- unresponsive congenital hyperinsulinism. J Med Genet,2010,47: 752-759.
  • 4Lovisolo SM, Mendonca BB, Pinto EM, et al. Congenital hyperinsulinism in Brazilian neonates: a study of histology, KATP channel genes, and proliferation of B cells. Pediatr Dev Pathol, 2010,13:375-384.
  • 5Henquin JC, Nenquin M, Sempoux C, et al. In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions. J Clin Invest ,2011,121:3932-3942.
  • 6蔡梦茵,翁建平.婴幼儿持续高胰岛素血症性低血糖症的分子病因[J].中华内分泌代谢杂志,2006,22(4):401-404. 被引量：7
  • 7De Le6n DD, Stanley CA. Mechanisms of Diease: advances in diagnosis and treatment of hyperinsulinism in neonates. Nat Clin Pract Endocrinol Metab,2007, 3:57-68.
  • 8Banerjee i, Skae M, Flanagan SE, et al. The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. Eur J Endocrinol, 2011,164:733-740.
  • 9Masue M, Nishibori H, Fukuyama S, et al. Diagnostic accuracy of [ 18 F ] -fluoro-L-dihydroxyphenylalanine positron emission tomography scan for persistent congenital hyperinsulinism in Japan. Clin Endocrinol,2011, 75:342-346.

二级参考文献25

  • 1翁建平.非胰岛β细胞瘤高胰岛素血症性低血糖的新观点[J].中华内分泌代谢杂志,2006,22(4):313-314. 被引量：3
  • 2Aynsley-Green A, Polak JM, Bloom SR, et al. Nesidioblastosis of the pancreas : definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia. Arch Dis Child, 1981,56:496-508.
  • 3Aguilar-Bryan L, Nichols CG, Wechsler SW, et al. Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion.Science, 1995,268:423-426.
  • 4Otonkoski T, Ammala C, Huopio H, et al. A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. Diabetes, 1999,48:408-415.
  • 5Otinkoski T, Kaminen N, Ustinov J, et al. Physical exercise-induced hypefinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes, 2003,52 : 199-203.
  • 6Sperling MA, Menon RK. Hyperinsulinemic hypoglycemia of infancy:recent insights into ATPsensitive potassium channels, sulfonylurea receptors, molecular mechanisms, and treatments. Endocrinol Metab Clin North Am, 1999,4:695-708.
  • 7Walker JE, Saraste MJ, Runswick MJ, et al. Distantly related sequences in the a- and b-subunits of ATP synthetase, myosin,kinases, and other ATP-requiring enzymes and a common nucleotidebinding fold. EMBO J, 1982,1:945-951.
  • 8Gribble FM, Tucker SJ, Ashcroft FM. The essential role of the Walker A motifs of SUR1 in K-ATP channel activation by Mg-ADP and diazoxide. EMBO J, 1997,16 : 1145-1152.
  • 9Tanizawa Y, Matsuda K, Matsuo M, et al. Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1. Diabetes, 2000,49 :114-120.
  • 10Aguilar-Bryan L, Bryan J. Molecular biology of adenosine triphosphate-sensitive potassium channels. Endocr Rev, 1999,20 : 101 - 135.

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中华糖尿病杂志
2013年 第11期

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