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遗传性牙本质疾病的发病机制、组织学特征及临床管理策略的研究进展

Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.

作者信息

Xue Qing, Wu Zhina, Zhao Yinuo, Wei Xiaoxi, Hu Min

机构信息

Hospital of Stomatology, Jilin University, Changchun, China.

出版信息

Front Cell Dev Biol. 2024 Dec 9;12:1474966. doi: 10.3389/fcell.2024.1474966. eCollection 2024.

DOI:10.3389/fcell.2024.1474966
PMID:39717845
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11663852/
Abstract

Hereditary dentine disorders are autosomal dominant diseases that affect the development and structure of dentine, leading to various dental abnormalities and influencing the individual's oral health. It is generally classified as dentinogenesis imperfecta (DGI) and dentine dysplasia (DD). Specifically, DGI is characterized by the abnormal formation of dentine, resulting in teeth that are discolored, translucent, and prone to fracture or wear down easily. DD is characterized by abnormal dentine development, manifested as teeth with short roots and abnormal pulp chambers, leading to frequent tooth loss. Up to now, the pathogenesis of hereditary dentine disorders has been poorly clarified and the clinical intervention is limited. Treatment for hereditary dentine disorders focuses on managing the symptoms and preventing further dental problems. Genetic counseling and testing may also be recommended as these conditions can be passed on to future generations. In this review, we summarize the clinical features, pathogenic genes, histomorphological characteristics and therapy of hereditary dentine disorders. Due to the limited understanding of the disease at present, we hope this review could improve the recognition of the disease by clinicians, stimulate more scholars to further study the deeply detailed mechanisms of the disease and explore potential therapeutic strategies, thus achieving effective, systematic management of the disease and improving the life quality of patients.

摘要

遗传性牙本质疾病是常染色体显性疾病,会影响牙本质的发育和结构,导致各种牙齿异常,并影响个体的口腔健康。它通常分为牙本质发育不全(DGI)和牙本质发育异常(DD)。具体而言,DGI的特征是牙本质形成异常,导致牙齿变色、半透明,且容易折断或磨损。DD的特征是牙本质发育异常,表现为牙根短和牙髓腔异常的牙齿,导致牙齿频繁脱落。到目前为止,遗传性牙本质疾病的发病机制尚未完全阐明,临床干预也很有限。遗传性牙本质疾病的治疗重点是控制症状和预防进一步的牙齿问题。由于这些疾病可能会遗传给后代,因此也可能会建议进行遗传咨询和检测。在这篇综述中,我们总结了遗传性牙本质疾病的临床特征、致病基因、组织形态学特征和治疗方法。由于目前对该疾病的了解有限,我们希望这篇综述能够提高临床医生对该疾病的认识,激发更多学者进一步深入研究该疾病的详细机制,并探索潜在的治疗策略,从而实现对该疾病的有效、系统管理,提高患者的生活质量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4af/11663852/c63828d77235/fcell-12-1474966-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4af/11663852/c63828d77235/fcell-12-1474966-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4af/11663852/c63828d77235/fcell-12-1474966-g001.jpg

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2
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Sci Rep. 2023 Apr 19;13(1):6393. doi: 10.1038/s41598-023-33362-1.
3
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4
Unequal Impact of and Variants on Dentinogenesis Imperfecta.和 变异型对牙本质生成不全的影响不均等。
J Dent Res. 2023 Jun;102(6):616-625. doi: 10.1177/00220345231154569. Epub 2023 Mar 23.
5
Morphological Study of Dental Structure in Dentinogenesis Imperfecta Type I with Scanning Electron Microscopy.Ⅰ型牙本质发育不全症牙齿结构的扫描电子显微镜形态学研究
Healthcare (Basel). 2022 Aug 2;10(8):1453. doi: 10.3390/healthcare10081453.
6
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Clin Genet. 2022 Oct;102(4):352-354. doi: 10.1111/cge.14184. Epub 2022 Jul 7.
7
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Ann Transl Med. 2021 Nov;9(22):1672. doi: 10.21037/atm-21-5369.
8
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