关键词: 遗传性牙本质发育不全, 常染色体显性遗传性疾病, 牙本质缺损, 临床管理

Abstract:

Dentinogenesis imperfecta (DGI) is an autosomal dominant genetic disorder characterized by abnormal dentin structure, manifesting as tooth discoloration, enamel fragility, dental wear, and pulp chamber alterations, which significantly impair masticatory function and aesthetics. Molecular genetic studies classify DGI into isolated and syndromic forms, with core pathogenic genes including DSPP and COL1A1/COL1A2. Advances in high-throughput sequencing and molecular diagnostics have facilitated precise disease subtyping and early intervention. Clinical management emphasizes a multidisciplinary approach. In childhood, preventive oral care is paramount, incorporating high-concentration fluoride application, home oral hygiene, and regular follow-up to delay dentin wear and enamel loss. Depending on the severity of tooth defects, restorative options including composite resin veneers, stainless-steel crowns, or full-coverage crowns can be used. In the permanent dentition and adulthood, digital dentistry, CAD/CAM restorations, and implant-supported prostheses can restore occlusal function and aesthetics. Early orthodontic intervention is recommended for patients with malocclusion or dental arch abnormalities. Emerging regenerative medicine, stem cell therapies, and potential gene-based interventions provide promising avenues for personalized and precision treatment. Integrating multidisciplinary collaboration with modern technological advances can optimize oral function and long-term quality of life for DGI patients, offering valuable guidance for clinical management.

Key words: dentinogenesis imperfecta, autosomal dominant genetic disorder, dentin defects, clinical management