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运动诱发性高胰岛素血症的遗传机制和诊疗综述
Exercise-induced hyperinsulinism: genetic basis and clinical management
【摘要】 运动诱发性高胰岛素血症,也称为单羧酸转运体1型高胰岛素血症,是一种罕见的先天性高胰岛素血症亚型,由编码单羧酸转运体1的SLC16A1基因功能获得性变异所致。目前文献报道的病例不足20例。该文对运动诱发性高胰岛素血症的遗传发病机制、当前诊断和治疗进行系统综述,以提高临床医生对该病的认识。
【Abstract】 Exercise-induced hyperinsulinism, also known as monocarboxylate transporter 1 hyperinsulinemia, is a rare subtype of congenital hyperinsulinism caused by gain-of-function variants in the SLC16A1 gene, which encodes monocarboxylate transporter 1. Fewer than 20 cases have been reported in the literature. In this review, the genetic pathogenesis, current diagnosis, and treatment of exercise-induced hyperinsulinism are systematically reviewed to improve clinicians’ understanding of the disease.
【关键词】 运动诱发性高胰岛素血症;
低血糖;
单羧酸转运体1;
二氮嗪;
【Key words】 Exercise-induced hyperinsulinism; Hypoglycemia; Monocarboxylate transporter 1; Diazoxide;
【Key words】 Exercise-induced hyperinsulinism; Hypoglycemia; Monocarboxylate transporter 1; Diazoxide;
- 【文献出处】 中国当代儿科杂志 ,Chinese Journal of Contemporary Pediatrics , 编辑部邮箱 ,2026年01期
- 【分类号】R725.8
- 【下载频次】13