Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene

被引：13

作者：

Conn, Jennifer J. ^{[1
]}

Simm, Peter J. ^{[2
]}

Oats, Jeremy J. N. ^{[1
]}

Nankervis, Alison J. ^{[1
]}

Jacobs, Susan E. ^{[3
]}

Ellard, Sian ^{[4
,5
]}

Hattersley, Andrew T. ^{[4
,5
]}

机构：

[1] Royal Womens Hosp, Diabet Serv, Parkville, Vic 3052, Australia

[2] Royal Childrens Hosp, Dept Endocrinol & Diabet, Parkville, Vic 3052, Australia

[3] Royal Hosp Women, Neonatal Serv, Parkville, Vic, Australia

[4] Royal Devon & Exeter NHS Fdn Trust, Dept Mol Genet, Exeter, Devon, England

[5] Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter, Devon, England

来源：

AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY | 2009年 / 49卷 / 03期

关键词：

HNF4A gene mutation; monogenic diabetes; neonatal hypoglycaemia; YOUNG; DIAGNOSIS;

D O I：

10.1111/j.1479-828X.2009.01009.x

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Recent research has demonstrated that mutations of the hepatocyte nuclear factor 4-alpha (HNF4A) gene are associated with neonatal hyperinsulinaemic hypoglycaemia. Mutations of this gene also cause one of the subtypes of monogenic diabetes, a form of diabetes formerly known as maturity-onset diabetes of the young. This article describes a family discovered to have a novel frame-shift mutation of the HNF4A gene in the setting of early-onset maternal diabetes and severe neonatal hyperinsulinaemic hypoglycaemia. The implications of a diagnosis of HNF4A gene mutation for obstetric and paediatric practice are discussed.

引用

页码：328 / 330

页数：3

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