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二氮嗪治疗无效的先天性高胰岛素血症3例家系KCNJ11基因突变分析 被引量：8

KCNJ11 mutation in 3 children with diazoxide-unresponsive congenital hyperinsulinism
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摘要 目的对3例二氮嗪治疗无效的先天性高胰岛素血症患儿及其家系进行KCNJ11基因突变分析，初步探讨中国儿童腺嘌呤核苷三磷酸敏感性钾通道型高胰岛素血症的发病机制。方法以2008年1月至2009年12月我院收治的3例二氮嗪治疗无效的先天性高胰岛素血症患儿及其家系为研究对象，采用聚合酶链反应DNA直接测序法对3例患儿及其亲属进行KCNJ11基因测序分析。结果于第1例患儿及其父亲的KCNJ11基因外显子中分别发现1个703C〉G（Q235E）杂合失活突变，患儿母亲该位点基因型正常（C／C）。未发现第2、3例患儿家系中出现KCNJ11基因突变。结论KCNJ11基因Q235E突变可以导致腺嘌呤核苷三磷酸敏感性钾通道型先天性高胰岛素血症的发生，少数常染色体显性遗传KCNJ11基因突变所致的腺嘌呤核苷三磷酸敏感性钾通道型先天性高胰岛素血症对二氮嗪治疗无效。 Objective To investigate KCNJ11 gene mutation in three children with diazoxideunresponsive congenital hyperinsulinism （CHI） so as to identify genetic mechanism of ATP-sensitive K ＋ channel-hyperinsulinism （KATP-HI） in Chinese children. Methods Three children with diazoxideunresponsive CHI and their parents were selected as subjects from January 2008 to December 2009. Polymerase chain reaction （PCR）-DNA direct sequencing was used to analyze the exon of the KCNJ11 gene. Results In case 1, a Q235E heterozygous inactivation mutation was found in KCNJ11 gene, although the genotype of the mother was normal （ C/C ）. No mutations were detected in case 2 and 3. Conclusion KCNJ11 Q235E mutation could lead to the onset of KATP-HI. Minority of patients with autosomal dominant KCNJ11 mutation may be unresponsive to diazoxide treatment.
作者 桑艳梅 徐子迪 闫洁 刘敏 倪桂臣
机构地区 首都医科大学附属北京儿童医院内科
出处 《中华糖尿病杂志》 CAS 2012年第5期270-273,共4页 CHINESE JOURNAL OF DIABETES MELLITUS
关键词 高胰岛素血症 二氮嗪 基因 钾通道 Hyperinsulinism Diazoxide Genes Potassium channels
分类号 R725.871 [医药卫生—儿科]
  • 相关文献

参考文献13

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二级参考文献13

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共引文献15

同被引文献62

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引证文献8

二级引证文献22

中华糖尿病杂志
2012年 第5期

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