中国实用内科杂志2025，Vol.45Issue(2)：117-120,4.DOI:10.19538/j.nk2025020108
单羧酸转运蛋白8缺陷症
Monocarboxylate transporter 8 deficiency
摘要
Abstract
Thyroid hormones enter target cells through transmembrane transporters to exert biological effects.The monocarboxylate transporter 8(MCT8)encoded by the SLC16A2 gene is the main transporter of thyroid hormones and their derivatives.MCT8 deficiency caused by SLC16A2 gene mutations is an X-chromosome linked disease,and male patients in the family exhibit delayed neurological development and severe intellectual disabilities.The typical laboratory characteristics are a significant increase in serum T3 levels,a normal low or significant decrease in T4 levels,and a decrease in rT3 levels.The combination therapy of propylthiouracil,L-T4,and thyroid hormone analog therapy are the main treatment options.关键词
SLC16A2基因/甲状腺激素转运体/单羧酸转运蛋白8/Allan-Herndon-Dudley综合征Key words
SLC16A2 gene/thyroid hormone transporter/monocarboxylate transporter 8/Allan-Herndon-Dudley syndrome分类
医药卫生引用本文复制引用
王黄曼,滕晓春..单羧酸转运蛋白8缺陷症[J].中国实用内科杂志,2025,45(2):117-120,4.基金项目
国家自然科学基金面上项目(82270831) （82270831）
国家重点研发计划(2022YFC3602303) （2022YFC3602303）
