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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.

DOI:10.1136/adc.79.5.445
PMID:10193261
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1717743/
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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Hyperinsulinism: molecular aetiology of focal disease.高胰岛素血症：局灶性疾病的分子病因学
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2
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本文引用的文献

1
Genetic heterogeneity in familial hyperinsulinism.家族性高胰岛素血症中的遗传异质性。
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Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.具有明显常染色体显性遗传的家族性高胰岛素血症：与常染色体隐性变异型的临床及遗传差异
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A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism.内向整流钾通道基因Kir6.2中的无义突变与家族性高胰岛素血症相关。
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4
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.散发性婴儿持续性高胰岛素血症中印记11p15区域的体细胞缺失是局灶性腺瘤样增生的特异性表现，并支持进行部分胰腺切除术。
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Science. 1995 Apr 21;268(5209):426-9. doi: 10.1126/science.7716548.
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Chromosome 11 allele loss in sporadic insulinoma.散发性胰岛素瘤中11号染色体等位基因缺失
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