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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

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【作者】 张启婷侯凌

【Author】 ZHANG Qi-Ting;HOU Ling;Department of Pediatrics,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology/Hubei Provincial Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases/Hubei Provincial Clinical Research Center for Children’s Growth and Development and Metabolic Diseases;

【通讯作者】 侯凌;

【机构】 华中科技大学同济医学院附属同济医院儿科学系/儿童遗传代谢内分泌罕见病湖北省重点实验室/湖北省儿童生长发育和代谢性疾病临床医学研究中心

【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.

  • 【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
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