DUOX2基因突变与先天性甲状腺功能减退症患儿临床表型关系的研究进展  

Advances in the relationship between DUOX2 gene mutations and clinical phenotypes of children with congenital hypothyroidism

作　　者：雷喜峰 苏雅洁 贺金峰 Lei Xifeng;Su Yajie;He Jinfeng(Xinjiang Medical University,Urumqi 830054,China;Department of Neonatology,Children's Hospital of Xinjiang Uygur Autonomous Region,Urumqi830000,China;Department of Neonatology,People's Hospital of Xinjiang Uygur Autonomous Region,Urumqi830000,China)

机构地区：[1]新疆医科大学,乌鲁木齐830054 [2]新疆维吾尔自治区儿童医院新生儿科,乌鲁木齐830000 [3]新疆维吾尔自治区人民医院新生儿科,乌鲁木齐830000

出　　处：《国际儿科学杂志》2024年第11期753-757,共5页International Journal of Pediatrics

基　　金：新疆维吾尔自治区自然科学基金(2021D01B78)。

摘　　要：先天性甲状腺功能减退症(congenital hypothyroidism,CH)是新生儿常见的内分泌疾病之一,主要由甲状腺发育不良或甲状腺激素生成障碍引起。DUOX2基因突变是甲状腺激素生成障碍常见致病基因,主要影响甲状腺激素合成所必需的过氧化氢的生成。近年来研究表明DUOX2基因突变存在人群及地区分布差异且不同突变类型与临床表型之间的关系不明确。复合杂合或纯合突变可引起DUOX2蛋白严重失活,但临床表型均可能表现为暂时性CH。虽然CH被认为是单基因遗传病,但部分病例存在单杂合致病或寡基因共存的情况,且寡基因共存与临床表型的相关性尚不确定。该文就DUOX2基因的结构及功能、人群分布特点以及不同突变与CH临床表型关系的研究进展作一综述。Congenital hypothyroidism is one of the common endocrine disorders in newborns,which is mainly caused by thyroid dysgenesis or dyshormonogenesis.DUOX2 gene mutation is a common pathogenic gene of thyroid hormone production disorder,which mainly affects production the hydrogen peroxide needed for thyroid hormone synthesis.In recent years,there are some reports shown that differences in population and regional distribution of DUOX2 gene mutations,and the relationship between different types of mutations and clinical phenotypes is unclear.Compound heterozygous or homozygous mutations can cause severe inactivation of DUOX2 protein,but the clinical phenotypes may be transient CH.Although CH is considered to be a monogenic disorder,some cases have monoheterozygous disease or oligogenic coexistence,and the correlation between oligogenic coexistence to the clinical phenotypes is uncertain.This article provides a review for the structure and function of DUOX2 gene,the characteristics of population distribution and recent advances in the relationship between DUOX2 gene mutations and clinical phenotypes with CH.

关 键 词：DUOX2 基因突变 先天性甲状腺功能减退症 

分 类 号：R725.8[医药卫生—儿科]