II型牙本质发育不全的诊疗策略和基因突变研究进展  

Advances in Treatment Strategy and Gene Mutation Study of Dentinogenesis Imperfecta Type II

作　　者：周凯 叶佳倩 管叶 

机构地区：[1]杭州医学院存济口腔医学院,浙江 杭州

出　　处：《临床医学进展》2023年第9期14839-14843,共5页Advances in Clinical Medicine

摘　　要：II型牙本质发育不全(DGI-II)是以牙本质发育异常为主要特征的常染色体显性遗传病。由于未能成熟地在分子机制上阐明遗传性牙本质异常发生的病因以及建立特定基因突变与临床表型的关系,DGI-II仍主要以Shields提出的临床表现和放射学特点为基础的分型,但其缺乏明显的遗传学病因界限。因此从分子水平构建一个更加科学而系统的分类体系尤为重要,也能为临床工作人员判断疾病类型及做出诊疗决策提供帮助。口腔数字化技术和粘接技术的变革为DGI-II提供了新的诊疗思路,而近年来对DGI-II致病基因研究的进一步认识,II型牙本质发育不全的诊疗思路成为当下的热点。本文就近年来关于DGI-II的诊疗策略和基因突变研究作一综述。Dentinogenesis imperfecta type II (DGI-II) is an autosomal dominant inherited disorder of dentin development. Due to the failure to completely elucidate the etiology of DGI-II in terms of molecular mechanisms and to establish the relationship between specific genetic mutations and clinical phe-notypes, DGI-II is still mainly typed based on the clinical manifestations and radiological features proposed by Shields, but it lacks clear genetic etiological boundaries. Therefore, it is especially im-portant to construct a more scientific and systematic classification system from the molecular level, which can also help clinical staff to determine the type of disease and make treatment decisions. The progress in dental digital technology and adhesive technology have provided new treatment ideas for DGI-II, with the further understanding of DGI-II’s gene mutation, diagnostic and treatment ideas for DGI-II have become a hot topic nowadays. This article reviews the diagnostic and thera-peutic strategies and gene mutation research on DGI-II in recent years.

关 键 词：II型牙本质发育不全 诊疗策略 基因突变 

分 类 号：R78[医药卫生—口腔医学]