颅缝早闭的病因学机制和治疗靶标
Etiologic Mechanisms and Therapeutic Targets of Craniosynostosis
翁振坤 1陈秀 2顾爱华1
作者信息
- 1. 南京医科大学生殖医学与子代健康全国重点实验室,南京 211166;南京医科大学公共卫生学院现代毒理学教育部重点实验室,南京 211166
- 2. 南京医科大学公共卫生学院现代毒理学教育部重点实验室,南京 211166
- 折叠
摘要
颅缝早闭是一种先天性颅面疾病,其特征是一条或多条颅缝过早融合.重度颅缝早闭患者常见的并发症包括颅内压升高和神经认知功能障碍.颅缝早闭可单独发生或与多种综合征相关.不同类型的颅缝早闭与特定的基因突变有关.此外,表观遗传改变和环境因素也被认为在颅缝早闭的病理生理过程中起着重要作用.该文综述了近年来关于颅缝早闭的类型、临床表现、病因及关键分子信号通路调控的研究进展,并探讨了在动物模型中开发的治疗靶标,为颅缝早闭的发生、发展及治疗提供全面且系统的认识.
Abstract
Craniosynostosis is a congenital craniofacial disorder characterized by premature fusion of one or more cranial sutures.Common complications in patients with severe craniosynostosis include increased intra-cranial pressure and neurocognitive dysfunction.Craniosynostosis can occur alone or in association with multiple syndromes.Different types of craniosynostosis are associated with specific gene mutations.In addition,epigenetic alterations and environmental factors are also thought to play an important role in the pathophysiology of cranio-synostosis.This article reviews the research progress on the types,clinical manifestations,etiology and key molecu-lar signaling pathways of craniosynostosis in recent years,and discusses the therapeutic targets developed in animal models,so as to provide a comprehensive and systematic understanding of the occurrence,development and treat-ment of craniosynostosis.
关键词
颅缝早闭/遗传变异/信号通路/治疗靶标Key words
craniosynostosis/genetic variation/signaling pathways/therapeutic targets引用本文复制引用
基金项目
国家重点研发计划(2019YFA0802701)
出版年
2024
NETL
NSTL
万方数据