Yuan G H, Chen Z
Department of Pediatric Dentistry, School of Stomatology, Wuhan University, Wuhan 430079, China.
Department of Endodontics, School of Stomatology, Wuhan University, Wuhan 430079, China.
Zhonghua Kou Qiang Yi Xue Za Zhi. 2023 Apr 9;58(4):305-311. doi: 10.3760/cma.j.cn112144-20230210-00041.
Heterogeneous mutations in dentin sialophosphoprotein (DSPP) gene, which is located on autosome 4, are associated with hereditary dentin developmental disorders. According to the new classification proposed by de La Dure-Molla et al, diseases caused by DSPP gene mutations mainly manifested as abnormal dentin development are collectively referred to as dentinogenesis imperfecta (DI), including dentin dysplasia type Ⅱ (DD-Ⅱ), dentinogenesis imperfecta type Ⅱ (DGI-Ⅱ) and dentinogenesis imperfecta type Ⅲ (DGI-Ⅲ) in Shields classification. And dentin dysplasia type Ⅰ (DD-Ⅰ) in Shields classification is redesignated as radicular dentin dysplasia. In this paper, progress in the classification, clinical characteristics and genetic mechanisms of DI are reviewed. This paper also provides clinical management and treatment strategies for patients suffering DI.
位于4号常染色体上的牙本质涎磷蛋白（DSPP）基因的异质性突变与遗传性牙本质发育障碍有关。根据德拉杜尔 - 莫拉等人提出的新分类，由DSPP基因突变引起的主要表现为牙本质发育异常的疾病统称为牙本质发育不全（DI），包括希尔兹分类中的Ⅱ型牙本质发育异常（DD - Ⅱ）、Ⅱ型牙本质生成不全（DGI - Ⅱ）和Ⅲ型牙本质生成不全（DGI - Ⅲ）。而希尔兹分类中的Ⅰ型牙本质发育异常（DD - Ⅰ）被重新命名为根面牙本质发育异常。本文综述了牙本质发育不全（DI）在分类、临床特征和遗传机制方面的进展。本文还为牙本质发育不全患者提供了临床管理和治疗策略。
