高胰岛素血症：局灶性疾病的分子病因学
Hyperinsulinism: molecular aetiology of focal disease.
作者信息
Ryan F, Devaney D, Joyce C, Nestorowicz A, Permutt M A, Glaser B, Barton D E, Thornton P S
机构信息
Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
出版信息
Arch Dis Child. 1998 Nov;79(5):445-7. doi: 10.1136/adc.79.5.445.
Abstract
Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1 mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism.
摘要
婴儿期持续性低血糖最常见的原因是高胰岛素血症。本文报告了一例49日龄诊断为高胰岛素血症的男婴，其胰岛素分泌性局灶性腺瘤中母源11p出现体细胞缺失，同时父源等位基因存在种系SUR-1突变。SUR-1突变纯合性降低被认为是局灶性高胰岛素血症病因的关键部分。
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