先天性腹壁缺损患儿的发病机制及创新治疗  

Pathogenesis and innovative treatment of congenital abdominal wall defects in children

作　　者：娜菲沙·沙木西丁 艾科热木·开赛尔江 王雅琦 李万富[1] Nafeisha Shamuxiding;Aikeremu Kaisaierjiang;Wang Yaqi;Li Wanfu(Department of Pediatric Surgery,The First Teaching Hospital of Xinjiang Medical University,Urumqi 830054,Xinjiang Uygur Autonomous Region,China;Department of Pediateic Internal Medicine,The First Teaching Hospital of Xinjiang Medical University,Urumqi 830054,Xinjiang Uygur Autonomous Region,China)

机构地区：[1]新疆医科大学第一附属医院小儿外科,乌鲁木齐830054 [2]新疆医科大学第一附属医院小儿内科,乌鲁木齐830054

出　　处：《中华妇幼临床医学杂志（电子版）》2024年第4期468-475,共8页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金：新疆维吾尔自治区重点研发计划项目(2023B03018-2)。

摘　　要：先天性腹壁缺损(CAWD)是指在出生时就存在的腹壁发育缺陷,导致腹部肌肉、皮肤和其他组织在腹部表面形成缺陷,其中最常见的是腹裂及脐膨出。导致CAWD的病因迄今尚不完全清楚,但是研究结果表明,可能与基因变异、环境和营养因素影响有关。随着人类科技进步,产前筛查和分子医学研究,使得临床对CAWD患儿的早期诊断和治疗成为可能。近年来,全球范围内新生儿CAWD发病率呈逐渐增加趋势,对患儿生活产生严重影响,甚至危及其生命。目前,针对CAWD的治疗方法主要为手术修复缺损,治疗效果与缺损大小及手术时机密切相关。基因检测技术的发展,使CAWD发病机制被逐渐阐明,开始尝试通过基因治疗改善患儿生活质量。笔者拟对CAWD发病的胚胎学背景、分子机制、环境及其他因素影响与创新治疗方法,以及CAWD产前筛查与公共卫生管理策略的最新研究进展进行综述,旨在为相关疾病的研究和治疗提供参考。Congenital abdominal wall defects(CAWD)are defects in the development of the abdominal wall at birth,resulting in the formation of defects in the abdominal muscles,skin and other tissues on the abdominal surface,the most common of which are gastroschisis and omphalocele.The causes of CAWD are not fully understood,but research suggests that genetic variations,environmental and nutritional factors may be involved.With advances in human science and technology,prenatal screening and molecular medical research have made it possible to diagnose and treat CAWD child early.In recent years,the incidence of CAWD has gradually increased worldwide,and it will have a serious impact on the life of patients,even life-threatening.At present,the main treatment methods for CAWD are surgical repair of defects,and the therapeutic effect is closely related to the size of the defect and the timing of surgery.With the development of genetic testing technology,the pathogenesis of CAWD has been gradually clarified and have begun to try to improve the quality of life of patients through gene therapy.The author intends to review the latest research progress of embryological background,molecular mechanism,environmental and other influencing factors,innovative treatments,and the prenatal screening and public health management strategies of CAWD,in order to provide reference for the research and treatment of related diseases.

关 键 词：腹裂 疝 脐 腹壁 分子机制 信号传导 外科手术 环境 儿童 

分 类 号：R726.5[医药卫生—儿科]