临床儿科杂志 >

2025 , Vol. 43 >Issue 8: 598 - 603

DOI: https://doi.org/10.12372/jcp.2025.25e0349

论著

甲状腺结合球蛋白缺乏症3个家系报告

  • 李苗苗 ,
  • 潘桂梅 ,
  • 刘磊 ,
  • 陈琼 ,
  • 李杨世玉 ,
  • 张子夏 ,
  • 王曦 ,
  • 杜萌萌 ,
  • 卫海燕 ,
  • 陈永兴
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  • 1.郑州大学附属儿童医院 河南省儿童医院 郑州儿童医院内分泌遗传代谢科（河南郑州 450053）
    2.青岛大学附属妇女儿童医院儿童重症监护室（山东青岛 266011）
    3.郑州大学附属儿童医院河南省儿童医院 郑州儿童医院儿研所 河南省儿童遗传代谢性疾病重点实验室（河南郑州 450018）
陈永兴 电子信箱：cyx75@126.com

收稿日期: 2025-04-03

  录用日期: 2025-05-26

  网络出版日期: 2025-07-28

基金资助

河南省医学科技攻关计划联合共建项目(LHGJ20210663)

收起

Thyroxine binding globulin deficiency in three families and review of the literature

  • LI Miaomiao ,
  • PAN Guimei ,
  • LIU Lei ,
  • CHEN Qiong ,
  • LI Yangshiyu ,
  • ZHANG Zixia ,
  • WANG Xi ,
  • DU Mengmeng ,
  • WEI Haiyan ,
  • CHEN Yongxing
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  • 1. Department of Endocrinology and Inborn Error of Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450053, Henan, China
    2. Pediatric Intensive Care Unit, Qingdao Women and Children's Hospital of Qingdao University, Qingdao, 266011, Shandong, China
    3. Pediatric Medical Institute, Children's Hospital Affiliated to Zhengzhou University Henan Children's Hospital, Zhengzhou Children's Hospital, Henan Provincial Key Laboratory for Genetic and Metabolic Disease in Children, Zhengzhou 450018, Henan, China

Received date: 2025-04-03

  Accepted date: 2025-05-26

  Online published: 2025-07-28

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摘要

目的 旨在探讨甲状腺结合球蛋白（TBG）缺乏症的临床特征和遗传学特点，提升临床诊断准确性，避免误诊及过度治疗。方法 对来自3个不同家系的成员进行SERPINA7基因测序，探究其遗传基础。结果 通过全外显子组测序检测出3个家系的变异均发生在外显子，分别为c.712A>G(p.M238V)、c.1114delC(p.L372Ffs*23)、c.383-401dup(p.F135Afs*21)，其中家系1、家系3的变异属首次报道。结论 TBG缺乏症无需特殊治疗，正确的诊断与全面的疾病教育是该病管理的关键。本研究发现了2个新的SERPINA7基因变异，拓展了该基因的变异谱。

关键词： TBG缺乏症; SERPINA7; 基因检测

本文引用格式

李苗苗 , 潘桂梅 , 刘磊 , 陈琼 , 李杨世玉 , 张子夏 , 王曦 , 杜萌萌 , 卫海燕 , 陈永兴 . 甲状腺结合球蛋白缺乏症3个家系报告[J]. 临床儿科杂志, 2025 , 43(8) : 598 -603 . DOI: 10.12372/jcp.2025.25e0349

Abstract

Objective To investigate the clinical characteristics and genetic features of thyroid-binding globulin (TBG) deficiency, enhance the accuracy of clinical diagnosis, and avoid misdiagnosis and overtreatment. Methods Members from three different families were subjected to SERPINA7 gene sequencing to explore its genetic basis. Results The variants detected in the three families through whole-exome sequencing occurred in exons, specifically c.712A>G(p.M238V), c.1114delC(p.L372Ffs*23), and c.383-401dup(p.F135Afs*21), with the variants in Family 1 and Family 3 being reported for the first time. Conclusion TBG deficiency does not require special treatment; correct diagnosis and comprehensive disease education are key to the management of this condition. This study identified two new SERPINA7 gene variants, expanding the mutation spectrum of this gene.

Key words： thyroxine binding globulin deficiency; SERPINA7; genetic testing

参考文献

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