遗传性牙齿萌出障碍的诊断和治疗

doi:10.13591/j.cnki.kqyx.2026.01.005

口腔医学 ›› 2026, Vol. 46 ›› Issue (1): 27-34.doi: 10.13591/j.cnki.kqyx.2026.01.005

• 口腔遗传病和罕见病的诊治 • 上一篇下一篇

遗传性牙齿萌出障碍的诊断和治疗

刘阳, 孙昕仪, 杜金莹, 宋蕊, 杨奕, 郑树国()

北京大学口腔医学院·口腔医院口腔预防科,国家口腔医学中心,国家口腔疾病临床医学研究中心,口腔生物材料和数字诊疗装备国家工程研究中心,口腔数字医学北京市重点实验室,国家卫生健康委口腔数字医学重点实验室,国家药品监督管理局口腔材料重点实验室,北京(100081)

收稿日期:2025-11-12 出版日期:2026-01-28 发布日期:2026-01-16
通讯作者: 郑树国 E-mail:kqzsg86@bjmu.edu.cn
作者简介:郑树国,北京大学口腔医院党委委员,口腔预防保健科党支部书记、科主任、教研室主任,二级教授、主任医师、博士研究生导师、博士后合作导师。国家重点研发计划重点项目首席科学家,北京市妇幼健康“双十”专家,英国爱丁堡皇家外科学院儿童口腔医学院士,国际牙医师学院院士。世界卫生组织(WHO)全球口腔健康专家委员会委员,亚洲口腔预防医学会(AAPD)候任主席,世界卫生组织预防牙医学科研与培训合作中心(WHOCC)主任,国家医学考试中心专家委员会委员兼口腔预防医学组副组长,国家卫健委职称考试专家委员会口腔预防医学组长,国家健康科普专家库成员,全国儿童口腔疾病综合干预项目国家专家组副组长,中国优生优育协会母婴口腔健康专业委员会主任委员,中华口腔医学会口腔预防医学专业委员会候任主任委员,国家口腔医学中心预防口腔专科联盟主任,中华口腔医学会口腔遗传病与罕见病专委会副主任委员等。
基金资助:
国家重点研发计划(2022YFA1206102);国家自然科学基金(82370911);国家自然科学基金(82001029)

Diagnosis and treatment of hereditary tooth eruption disorders

LIU Yang, SUN Xinyi, DU Jinying, SONG Rui, YANG Yi, ZHENG Shuguo()

Department of Preventive Dentistry, Peking University School and Hospital of Stomatology & National Center for Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices & Beijing Key Laboratory of Digital Stomatology & NHC Key Laboratory of Digital Stomatology & NMPA Key Laboratory for Dental Materials, Beijing 100081, China

Received:2025-11-12 Online:2026-01-28 Published:2026-01-16
Contact: ZHENG Shuguo E-mail:kqzsg86@bjmu.edu.cn

摘要/Abstract

摘要：

牙齿萌出障碍是口腔常见发育异常,其中遗传因素导致的类型因其复杂的分子机制与多样的临床表现,在诊断与治疗上面临严峻挑战。本文系统综述了原发性牙齿萌出障碍、颅骨锁骨发育不全、骨硬化症、致密性成骨不全和GAPO综合征等5种主要遗传性牙齿萌出障碍疾病的病因机制、临床特征及诊疗策略。在诊断方面,强调结合特征性临床表现、影像学评估和基因检测的综合诊断路径,以实现精准分型。治疗上提出应以多学科协作为基础,制定个体化序列治疗方案,同时重视遗传咨询与长期管理。本文旨在为临床系统认识此类疾病、实现精准诊疗提供理论依据和实践指导。

关键词: 遗传性牙齿萌出障碍, 致病基因, 多学科协作, 个体化治疗

Abstract:

Tooth eruption disorders represent common developmental anomalies in dentistry, among which hereditary types pose significant challenges in diagnosis and treatment due to their complex molecular mechanisms and diverse clinical manifestations. This review systematically summarizes the etiology, clinical features, and management strategies of five major hereditary tooth eruption disorders, including primary failure of eruption(PFE), cleidocranial dysplasia(CCD), osteopetrosis(OP), pyknodysostosis, and GAPO syndrome. For diagnosis, we emphasize an integrated approach combining characteristic clinical presentations, imaging evaluations, and genetic testing to achieve precise classification. Regarding treatment, we propose multidisciplinary collaboration as the foundation for developing personalized sequential treatment plans, while highlighting the importance of genetic counseling and long-term management. This review aims to provide both theoretical foundations and practical guidance for the systematic understanding and precise management of these disorders.

Key words: hereditary tooth eruption disorders, pathogenic genes, multidisciplinary collaboration, personalized treatment

中图分类号:

R781.2

刘阳, 孙昕仪, 杜金莹, 宋蕊, 杨奕, 郑树国. 遗传性牙齿萌出障碍的诊断和治疗[J]. 口腔医学, 2026, 46(1): 27-34.

LIU Yang, SUN Xinyi, DU Jinying, SONG Rui, YANG Yi, ZHENG Shuguo. Diagnosis and treatment of hereditary tooth eruption disorders[J]. Stomatology, 2026, 46(1): 27-34.

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遗传性牙齿萌出障碍的诊断和治疗

Diagnosis and treatment of hereditary tooth eruption disorders

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