单羧酸转运蛋白8缺陷症  

Monocarboxylate transporter 8 deficiency

作　　者：王黄曼 滕晓春[1] WANG Huang-man;TENG Xiao-chun(Department of Endocrinology and Metabolism,Key Laboratory of Diagnosis and Treatment of Thyroid Diseases of National Health Commision,the First Affiliated Hospital of China Medical University,Shenyang 110001,China)

机构地区：[1]国家卫生健康委员会甲状腺疾病诊疗重点实验室、中国医科大学第一附属医院内分泌与代谢病科,辽宁沈阳110001

出　　处：《中国实用内科杂志》2025年第2期117-120,共4页Chinese Journal of Practical Internal Medicine

基　　金：国家自然科学基金面上项目(82270831);国家重点研发计划(2022YFC3602303)。

摘　　要：甲状腺激素通过跨膜转运蛋白进入靶细胞发挥生物学作用。SLC16A2基因编码的单羧酸转运蛋白8(monocarboxylate transporter 8,MCT8)是甲状腺激素及其衍生物的主要转运蛋白,SLC16A2基因突变导致的MCT8缺陷症是X染色体连锁疾病,家系中的男性患者均表现为神经系统发育迟缓、有严重的智力缺陷。血清T3水平明显升高、T4水平正常低值或明显降低、反三碘甲状腺原氨酸水平降低是其典型的实验室特征。丙基硫氧嘧啶、L-T4的联合治疗和甲状腺激素类似物治疗是其主要的治疗方案。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 

分 类 号：R58[医药卫生—内分泌]