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持续性新生儿高胰岛素血症

Persistent neonatal hyperinsulinism.

作者信息

Mathew P M, Young J M, Abu-Osba Y K, Mulhern B D, Hammoudi S, Hamdan J A, Sa'di A R

机构信息

Department of Paediatrics, Dhahran Health Center, Saudi Arabia.

出版信息

Clin Pediatr (Phila). 1988 Mar;27(3):148-51. doi: 10.1177/000992288802700307.

DOI:10.1177/000992288802700307
PMID:3342599
Abstract

Over a 3-year period, the diagnosis of persistent neonatal hyperinsulinism (PNH) was made in seven infants, from an unselected cohort of 18,726 births, all of Saudi Arabian origin. Thus the incidence of PNH was one in 2,675 births. The high incidence, associated consanguinity, and occurrence in siblings suggest that PNH may be inherited as an autosomal recessive disorder.

摘要

在3年时间里,从18726例出生婴儿(均为沙特阿拉伯血统)的非选择性队列中,诊断出7例持续性新生儿高胰岛素血症(PNH)。因此,PNH的发病率为每2675例出生中有1例。高发病率、相关的近亲结婚以及在兄弟姐妹中的发生表明,PNH可能作为常染色体隐性疾病遗传。

相似文献

1
Persistent neonatal hyperinsulinism.持续性新生儿高胰岛素血症
Clin Pediatr (Phila). 1988 Mar;27(3):148-51. doi: 10.1177/000992288802700307.
2
Role of initial near total (95%) pancreatectomy in persistent neonatal hyperinsulinism (PNH).初次近全胰腺切除术(95%)在持续性新生儿高胰岛素血症(PNH)中的作用。
Eur J Pediatr Surg. 1996 Apr;6(2):82-5. doi: 10.1055/s-2008-1066477.
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Persistent neonatal hyperinsulinemic hypoglycemia in two siblings successfully treated with diazoxide.两例同胞持续性新生儿高胰岛素血症性低血糖症患儿经二氮嗪治疗成功
Helv Paediatr Acta. 1986 Dec;41(5):455-9.
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Familial hyperinsulinism with nesidioblastosis of the pancreas: further evidence for autosomal recessive inheritance.
Am J Med Genet. 1989 Dec;34(4):584-6. doi: 10.1002/ajmg.1320340426.
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The association of leukocyte adhesion defect type I and persistent hyperinsulinemic hypoglycemia of infancy in a Saudi Arabian family.沙特阿拉伯一个家庭中I型白细胞黏附缺陷与婴儿持续性高胰岛素血症性低血糖症的关联。
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Persistent neonatal hypoglycemia due to hyperinsulinism: medical aspects.高胰岛素血症所致持续性新生儿低血糖症:医学方面
Pediatrics. 1982 Sep;70(3):440-6.
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Hypoglycemia in the neonate.新生儿低血糖症
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Persistent hyperinsulinemic hypoglycemia of infancy.婴儿持续性高胰岛素血症性低血糖症
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Early brain atrophy in persistent hyperinsulinemic hypoglycemia of infancy.婴儿持续性高胰岛素血症低血糖症中的早期脑萎缩
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[Neonatal hypoglycemia caused by hyperinsulinism and subsequent epilepsy].[高胰岛素血症所致新生儿低血糖及随后的癫痫]
Arch Fr Pediatr. 1987 Feb;44(2):85-9.

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Neonatal Congenital Hyperinsulinism: A Case-Based Contribution to the Understanding of a Rare Disorder.新生儿先天性高胰岛素血症:基于病例对一种罕见疾病的理解所做的贡献
Cureus. 2025 Aug 3;17(8):e89272. doi: 10.7759/cureus.89272. eCollection 2025 Aug.
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The Birth Prevalence of Congenital Hyperinsulinism: A Narrative Review of the Epidemiology of a Rare Disease.先天性高胰岛素血症的出生患病率:一种罕见疾病流行病学的叙述性综述
Horm Res Paediatr. 2024 Jun 17:1-8. doi: 10.1159/000539464.
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Approach to the Neonate With Hypoglycemia.新生儿低血糖症的处理方法。
J Clin Endocrinol Metab. 2024 Aug 13;109(9):e1787-e1795. doi: 10.1210/clinem/dgae267.
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Case report: Pylorus-preserving pancreatoduodenectomy for focal congenital hyperinsulinism in a 5-month-old baby.病例报告:5个月大婴儿局灶性先天性高胰岛素血症的保留幽门胰十二指肠切除术
Front Surg. 2023 Jan 30;9:1085238. doi: 10.3389/fsurg.2022.1085238. eCollection 2022.
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A Novel Somatic Mutation Implicates ATP6V0D1 in Proinsulin Processing.一种新型体细胞突变表明ATP6V0D1参与胰岛素原加工过程。
J Endocr Soc. 2022 Dec 29;7(3):bvac196. doi: 10.1210/jendso/bvac196. eCollection 2023 Jan 6.
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Front Endocrinol (Lausanne). 2022 Jul 7;13:873254. doi: 10.3389/fendo.2022.873254. eCollection 2022.
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Congenital Hyperinsulinism International: A Community Focused on Improving the Lives of People Living With Congenital Hyperinsulinism.先天性高胰岛素血症国际组织:一个专注于改善先天性高胰岛素血症患者生活的社区。
Front Endocrinol (Lausanne). 2022 Apr 28;13:886552. doi: 10.3389/fendo.2022.886552. eCollection 2022.
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Novel Compound Heterozygous Variants of the Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism.基因的新型复合杂合变异体有助于鉴定二氮嗪无反应性先天性高胰岛素血症婴儿的胰腺组织学。
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Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11.出生体重和二氮嗪无反应强烈预测 ABCC8 或 KCNJ11 基因突变引起的先天性高胰岛素血症的可能性。
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