我国口腔遗传病与罕见病的诊治现状与思考

Current situation and consideration of the diagnosis and treatment of oral genetic diseases and rare diseases in China

口腔遗传病与罕见病多表现为多器官或组织的结构异常或功能障碍,具有患病率低、临床特征复杂多样、病情较重的特征,是口腔诊治的难点。该文回顾了口腔遗传病与罕见病的有关概念,相关学科在国内外的发展以及国内目前针对此类疾病的诊治现状,并就口腔遗传病与罕见病的序列治疗、人文关怀和伦理等方面,分析未来口腔遗传病与罕见病值得关注的若干问题和研究趋势。

Oral genetic diseases and rare diseases are characterized by structural abnormalities or dysfunction of multiple organs or tissues,low prevalence,complex,diverse and severity clinical features,which is a difficult point in the regular dental practice.This article reviews the concept of oral genetic diseases and rare diseases,the development of related disciplines at home and abroad,and the current situation of diagnosis and treatment of such kinds of diseases in China.The following issues and clinical research trends in the future are emphasized such as sequential treatment,humanistic care,and ethics of oral genetic diseases and rare diseases.