Familial hyperinsulinism caused by an activating glucokinase mutation
Familial hyperinsulinism caused by an activating glucokinase mutation
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DOI：
10.1056/nejm199801223380404
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发表时间：
1998-01-22
影响因子：
158.5
通讯作者：
Herold, KC
中科院分区：
文献类型：
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作者：
Glaser, B;Kesavan, P;Herold, KC
成人自发性高胰岛素血症性低血糖最常见于散发性、孤立性胰腺β细胞肿瘤，而儿童期高胰岛素血症性低血糖通常是由广泛性β细胞功能障碍引起的。1 β细胞磺酰脲受体（SUR 1）基因或内向整流钾通道突变（Kir6.2）基因。2 - 7最近报道了一种独特的高胰岛素血症伴高血氨综合征，8，9显然是由谷氨酸脱氢酶基因突变引起的。10然而，许多散发性和家族性高胰岛素血症病例仍然无法解释。有些可能是由于其他基因的体细胞突变，如常染色体显性遗传家族性高胰岛素血症的报告所建议的那样。
Spontaneous hyperinsulinemic hypoglycemia in adults is most frequently caused by sporadic, solitary pancreatic beta-cell tumors, whereas hyperinsulinemic hypoglycemia in childhood is commonly caused by generalized beta-cell dysfunction.1Mutations in the beta-cell sulfonylurea-receptor (SUR1) gene or inward-rectifying potassium-channel (Kir6.2) gene were found in some patients.2–7A distinct syndrome of hyperinsulinism with hyperammonemia was recently described,8,9apparently caused by mutations in the glutamate dehydrogenase gene.10However, many sporadic and familial cases of hyperinsulinism remain unexplained. Some may be due to somatic mutations in other genes, as suggested by reports of autosomal dominant familial hyperinsulinism that was . . .