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严重短暂性新生儿高胰岛素血症:秘鲁首例病例系列

Severe transient neonatal hyperinsulinism: First Peruvian case series.

作者信息

Virú-Loza Manuel André, Bermudez-Paredes Francesca, Arauco-Carhuas Isabel Milagros

机构信息

Unidad de Revisiones Sistemáticas y Meta-análisis, Vicerrectorado de Investigación, Universidad San Ignacio de Loyola, Lima, Peru.

ADIECS Asociación para el Desarrollo de la Investigación Estudiantil en Ciencias de la Salud, Universidad Nacional Mayor de San Marcos, Lima, Peru.

出版信息

SAGE Open Med Case Rep. 2025 Jun 13;13:2050313X251347787. doi: 10.1177/2050313X251347787. eCollection 2025.

DOI:10.1177/2050313X251347787
PMID:40520083
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12166237/
Abstract

Congenital hyperinsulinism is characterized by dysregulated insulin secretion and is the most common and severe cause of persistent hypoglycemia in pediatrics. Brain damage rates can be as high as 50% due to inadequate treatment. Transient congenital hyperinsulinism is more frequent than permanent congenital hyperinsulinism. Acquired hyperinsulinism due to perinatal stress is often transient, too. Diazoxide is the first-line therapy. However, in Peru, reports about pediatric patients with hyperinsulinism treated with diazoxide are scarce. Our article describes the first Peruvian case series of severe transient neonatal hyperinsulinism treated with diazoxide, with good response and manageable adverse effects. Diazoxide should be included in the Single National Pharmaceutical Request Form for Essential Medicines of Peru to expedite the use of a medication as essential as this one.

摘要

先天性高胰岛素血症的特征是胰岛素分泌失调,是儿科持续性低血糖最常见和最严重的原因。由于治疗不充分,脑损伤率可高达50%。短暂性先天性高胰岛素血症比永久性先天性高胰岛素血症更常见。围产期应激导致的获得性高胰岛素血症通常也是短暂的。二氮嗪是一线治疗药物。然而,在秘鲁,关于用二氮嗪治疗高胰岛素血症儿科患者的报道很少。我们的文章描述了秘鲁首例用二氮嗪治疗严重短暂性新生儿高胰岛素血症的病例系列,反应良好且不良反应可控。二氮嗪应列入秘鲁基本药物国家单一药品申请表,以加快使用如此重要的药物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf8/12166237/574bcb4d7e47/10.1177_2050313X251347787-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf8/12166237/e5b96a5655f3/10.1177_2050313X251347787-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf8/12166237/666e3e6f9633/10.1177_2050313X251347787-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf8/12166237/af80abb9711b/10.1177_2050313X251347787-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf8/12166237/574bcb4d7e47/10.1177_2050313X251347787-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf8/12166237/e5b96a5655f3/10.1177_2050313X251347787-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf8/12166237/666e3e6f9633/10.1177_2050313X251347787-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf8/12166237/af80abb9711b/10.1177_2050313X251347787-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf8/12166237/574bcb4d7e47/10.1177_2050313X251347787-fig4.jpg

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本文引用的文献

1
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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Neonatal hypoglycaemia.新生儿低血糖症
BMJ Med. 2024 Apr 9;3(1):e000544. doi: 10.1136/bmjmed-2023-000544. eCollection 2024.
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Congenital hyperinsulinism.先天性高胰岛素血症
Tidsskr Nor Laegeforen. 2023 Dec 11;143(18). doi: 10.4045/tidsskr.23.0425. Print 2023 Dec 12.
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International Guidelines for the Diagnosis and Management of Hyperinsulinism.国际高胰岛素血症诊断与管理指南。
Horm Res Paediatr. 2024;97(3):279-298. doi: 10.1159/000531766. Epub 2023 Jul 14.
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Hyperinsulinism-hyperammonemia syndrome in two Peruvian children with refractory epilepsy.两名患有难治性癫痫的秘鲁儿童的高胰岛素血症-高氨血症综合征
J Pediatr Endocrinol Metab. 2022 Dec 8;36(2):207-211. doi: 10.1515/jpem-2022-0490. Print 2023 Feb 23.
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Congenital Hyperinsulinaemic Hypoglycaemia-A Review and Case Presentation.先天性高胰岛素血症性低血糖症——综述与病例报告
J Clin Med. 2022 Oct 12;11(20):6020. doi: 10.3390/jcm11206020.
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Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniques.临床实践中的先天性高胰岛素血症:从生化病理生理学到新的监测技术
Front Pediatr. 2022 Sep 23;10:901338. doi: 10.3389/fped.2022.901338. eCollection 2022.
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Defective Cortisol Secretion in Response to Spontaneous Hypoglycemia but Normal Cortisol Response to ACTH stimulation in neonates with Hyperinsulinemic Hypoglycemia (HH).新生儿胰岛素血症性低血糖(HH)患者在自发性低血糖时皮质醇分泌缺陷,但对 ACTH 刺激的皮质醇反应正常。
Acta Biomed. 2021 May 12;92(2):e2021182. doi: 10.23750/abm.v92i2.11396.
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Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.儿童和青少年的高胰岛素血症性低血糖症:对病理生理学和治疗理解的最新进展。
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Congenital hyperinsulinism disorders: Genetic and clinical characteristics.先天性高胰岛素血症疾病:遗传和临床特征。
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