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罕见类型先天性高胰岛素血症的遗传发病机制及诊疗进展 被引量：6

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摘要 先天性高胰岛素血症（CHI）是一类遗传异质性疾病，由于胰岛素自主分泌过多，血胰岛素浓度增加，从而导致生后出现顽固性、持久性低血糖。迄今已发现了8种遗传学类型，分子遗传学研究证实：KATP-HI是CHI最常见的类型（由ABCC8和KCNJll基因突变引起），占CHI的40％～45％，
作者 徐子迪 桑艳梅
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中心儿科学国家重点学科
出处 《中华糖尿病杂志》 CAS CSCD 2015年第12期778-781,共4页 CHINESE JOURNAL OF DIABETES MELLITUS
基金 首都医学临床特色项目（Z141107002514142）
关键词 先天性高胰岛素血症 遗传异质性疾病 发病机制 罕见类型 诊疗 血胰岛素浓度 遗传学类型 分子遗传学
分类号 R587.1 [医药卫生—内分泌]
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参考文献30

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二级参考文献9

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同被引文献28

  • 1James C, Kapoor RR, Ismail D, et al. The genetic basis of congenital hyperinsulinism[J]. J Med Genet, 2009,46(5):289- 299.
  • 2Osbak KK, Colclough K, Saint-Martin C, et al. Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia[J]. Hum Mutat, 2009,30(11): 1512-1526.
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中华糖尿病杂志
2015年 第12期

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