人工智能在口腔遗传病诊疗中的应用进展

doi:10.19438/j.cjoms.2025.04.015

摘要/Abstract

摘要： 口腔遗传病因其病情罕见、病例零散、病因和表征复杂、诊断标准和方法欠缺等原因,早期诊断和治疗的可及性严重不足。人工智能（artificial intelligence,AI）以其对大型复杂数据集进行特征提取、变异识别、分类分型、结果预测时的独特优势,有望在口腔遗传病的预防、诊断、治疗和基础研究等方面取得突破。已有较多研究通过AI模型或软件识别并处理患者的病历、照片、影像图片、关键基因或转录组和生物标志物等数据,辅助多种口腔遗传病的诊疗和研究。本文在循证基础上,就AI在牙、牙周、口腔黏膜、口面裂相关遗传病以及其他引起颅颌面畸形的口腔遗传病中的应用进行回顾和总结,并对未来发展方向做出展望。

关键词: 人工智能, 口腔遗传病, 深度学习, 机器学习, 综合征

Abstract: Rare condition, scattered cases, complex etiology and clinical features, inadequate diagnostic criteria and methods and other reasons lead to the serious lack of accessibility for early diagnosis and treatment of oral genetic diseases. Artificial intelligence(AI) is expected to make breakthroughs in the prevention, diagnosis, treatment and basic research of oral genetic diseases due to its unique advantages in feature extraction, variant recognition, classification, typing and outcome prediction of large and complex data sets. Many studies have identified and processed patients' medical records, photos, radiographic images, key genes or transcriptome, biomarkers and other data through AI models or software to assist the diagnosis, treatment and research of various oral genetic diseases. Based on the literature evidence, this article reviewed and summarized the application of AI in teeth, periodontal tissues, oral mucosa, orofacial clefts related genetic diseases and other oral genetic diseases that cause craniofacial malformations. The future development of this field was also prospected.

Key words: Artificial intelligence, Oral genetic diseases, Deep learning, Machine learning, Syndrome

中图分类号:

顾安琪, 张晨, 陶宝鑫, 吴轶群, 周文洁. 人工智能在口腔遗传病诊疗中的应用进展[J]. 中国口腔颌面外科杂志, 2025, 23(4): 406-415.

Gu Anqi, Zhang Chen, Tao Baoxin, Wu Yiqun, Zhou Wenjie. Application progress of artificial intelligence in diagnosis and treatment of oral genetic diseases[J]. China J Oral Maxillofac Surg, 2025, 23(4): 406-415.

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