运动诱发性高胰岛素血症的遗传机制和诊疗综述

张启婷; 侯凌

doi:10.7499/j.issn.1008-8830.2507173

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中国当代儿科杂志 ›› 2026, Vol. 28 ›› Issue (1) : 128-134. DOI: 10.7499/j.issn.1008-8830.2507173

综述

运动诱发性高胰岛素血症的遗传机制和诊疗综述

张启婷 (综述) ,
侯凌 (审校)

作者信息 +

Exercise-induced hyperinsulinism: genetic basis and clinical management

Qi-Ting ZHANG ,
Ling HOU

Author information +

文章历史 +

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.

导出引用

张启婷, 侯凌. 运动诱发性高胰岛素血症的遗传机制和诊疗综述[J]. 中国当代儿科杂志. 2026, 28(1): 128-134 https://doi.org/10.7499/j.issn.1008-8830.2507173

Qi-Ting ZHANG, Ling HOU. Exercise-induced hyperinsulinism: genetic basis and clinical management[J]. Chinese Journal of Contemporary Pediatrics. 2026, 28(1): 128-134 https://doi.org/10.7499/j.issn.1008-8830.2507173

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