谷氨酸脱氢酶性高胰岛素血症：发病机制、诊断与治疗。

Department of Anesthesiology, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, 310052, China.

Department of Endocrinology, Genetics and Metabolism Centre, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing, 100045, China.

Orphanet J Rare Dis. 2023 Jan 31;18(1):21. doi: 10.1186/s13023-023-02624-6.

Congenital hyperinsulinism (CHI) is a genetically heterogeneous disease, in which intractable, persistent hypoglycemia is induced by excessive insulin secretion and increased serum insulin concentration. To date,15 genes have been found to be associated with the pathogenesis of CHI. Glutamate dehydrogenase hyperinsulinism (GDH-HI) is the second most common type of CHI and is caused by mutations in the glutamate dehydrogenase 1 gene. The objective of this review is to summarize the genetic mechanisms, diagnosis and treatment progress of GDH-HI. Early diagnosis and treatment are extremely important to prevent long-term neurological complications in children with GDH-HI.

先天性高胰岛素血症（CHI）是一种遗传异质性疾病，其特征为胰岛素分泌过多和血清胰岛素浓度升高导致的难治性、持续性低血糖。迄今为止，已有 15 个基因被发现与 CHI 的发病机制有关。谷氨酸脱氢酶高胰岛素血症（GDH-HI）是 CHI 的第二大常见类型，由谷氨酸脱氢酶 1 基因的突变引起。本综述旨在总结 GDH-HI 的遗传机制、诊断和治疗进展。早期诊断和治疗对于预防 GDH-HI 患儿的长期神经并发症极为重要。