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Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A).

作者信息

Fajans S S, Bell G I

出版信息

Diabetologia. 2007 Dec;50(12):2600-1. doi: 10.1007/s00125-007-0833-7. Epub 2007 Sep 22.

DOI:10.1007/s00125-007-0833-7
PMID:17891372
Abstract
摘要

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1
Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A).在编码肝细胞核因子4α（HNF4A）的基因中存在突变（Q268X）的RW家系受试者中的巨大儿和新生儿低血糖症。
Diabetologia. 2007 Dec;50(12):2600-1. doi: 10.1007/s00125-007-0833-7. Epub 2007 Sep 22.
2
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.HNF4A基因杂合突变患者的巨大儿和高胰岛素血症性低血糖症
PLoS Med. 2007 Apr;4(4):e118. doi: 10.1371/journal.pmed.0040118.
3
Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.由于杂合性HNF4A突变导致的持续性高胰岛素血症性低血糖症和青年发病型糖尿病。
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4
Macrosomia, transient neonatal hypoglycemia, and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene.
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5
Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene.由于HNF4A基因杂合突变导致的新生儿高胰岛素血症性低血糖症和单基因糖尿病。
Aust N Z J Obstet Gynaecol. 2009 Jun;49(3):328-30. doi: 10.1111/j.1479-828X.2009.01009.x.
6
The evolving course of HNF4A hyperinsulinaemic hypoglycaemia--a case series.肝细胞核因子4A（HNF4A）相关高胰岛素性低血糖症的演变过程——病例系列报道
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J Pediatr Endocrinol Metab. 2011;24(5-6):377-9.
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HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response.肝细胞核因子4α（HNF4A）突变：从高胰岛素血症性低血糖转变为青少年发病的成年型糖尿病，以及肠促胰岛素反应。
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Eur J Endocrinol. 2022 Feb 22;186(4):417-427. doi: 10.1530/EJE-21-0897.

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Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.高胰岛素血症和糖尿病的个体及家族单基因病例的可变表型：一项系统综述
Rev Endocr Metab Disord. 2022 Oct;23(5):1063-1078. doi: 10.1007/s11154-022-09749-2. Epub 2022 Aug 23.
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本文引用的文献

1
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.HNF4A基因杂合突变患者的巨大儿和高胰岛素血症性低血糖症
PLoS Med. 2007 Apr;4(4):e118. doi: 10.1371/journal.pmed.0040118.
2
Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees.青少年发病的成年型糖尿病（MODY）亚型的不同突变之间以及MODY家系内部的表型异质性。
Diabetologia. 2006 May;49(5):1106-8. doi: 10.1007/s00125-006-0158-y. Epub 2006 Feb 25.
3
Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1).
在追求单基因糖尿病精准医学的真正方法中，可操作基因的作用。
Genes (Basel). 2022 Jan 9;13(1):117. doi: 10.3390/genes13010117.
4
The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.先天性高胰岛素血症的遗传和分子机制
Front Endocrinol (Lausanne). 2019 Feb 26;10:111. doi: 10.3389/fendo.2019.00111. eCollection 2019.
5
Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.高胰岛素血症性低血糖症的诊断与治疗及其对儿科内分泌学的影响
Int J Pediatr Endocrinol. 2017;2017:9. doi: 10.1186/s13633-017-0048-8. Epub 2017 Aug 29.
6
Management of sulfonylurea-treated monogenic diabetes in pregnancy: implications of placental glibenclamide transfer.妊娠中磺酰脲类药物治疗的单基因糖尿病管理：胎盘格列本脲转移的影响。
Diabet Med. 2017 Oct;34(10):1332-1339. doi: 10.1111/dme.13388. Epub 2017 Jun 13.
7
The Genetic Architecture of Diabetes in Pregnancy: Implications for Clinical Practice.妊娠期糖尿病的遗传结构：对临床实践的启示。
Am J Perinatol. 2016 Nov;33(13):1319-1326. doi: 10.1055/s-0036-1592078. Epub 2016 Aug 29.
8
Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms.高胰岛素血症性低血糖症——分子机制
Front Endocrinol (Lausanne). 2016 Mar 31;7:29. doi: 10.3389/fendo.2016.00029. eCollection 2016.
9
The molecular mechanisms, diagnosis and management of congenital hyperinsulinism.先天性高胰岛素血症的分子机制、诊断与管理
Indian J Endocrinol Metab. 2013 Jan;17(1):19-30. doi: 10.4103/2230-8210.107822.
10
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.高胰岛素血症性低血糖：遗传机制、诊断与治疗。
J Inherit Metab Dis. 2012 Jul;35(4):589-601. doi: 10.1007/s10545-011-9441-2. Epub 2012 Jan 10.
青年发病的成年型糖尿病（MODY1）中肝细胞核因子-4α基因的突变
Nature. 1996 Dec 5;384(6608):458-60. doi: 10.1038/384458a0.
4
Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12.在12号染色体上糖尿病易感基因MODY3发生突变的糖尿病和非糖尿病受试者中，胰岛素对葡萄糖的分泌反应发生改变。
Diabetes. 1996 Nov;45(11):1503-10. doi: 10.2337/diab.45.11.1503.
5
Maturity-onset diabetes of the young.青年发病的成年型糖尿病
Life Sci. 1994;55(6):413-22. doi: 10.1016/0024-3205(94)90052-3.
6
The Banting Memorial Lecture 1978. Clinical and etiologic heterogeneity of idiopathic diabetes mellitus.1978年班廷纪念讲座。特发性糖尿病的临床和病因异质性。
Diabetes. 1978 Nov;27(11):1112-25. doi: 10.2337/diab.27.11.1112.