手外科与罕见病
田文
102200 北京,首都医科大学附属北京积水潭医院手外科,先天性手部畸形及罕见病诊疗中心
摘要：Rare diseases,also named as"orphan diseases",are a category of diseases with a very low incidence rate or a very small number of patients.Many rare diseases are congenital or hereditary disorders,also relate to genetics or gene mutations.Although the patients number of a single disease is extremely small,the total number of patients is actually not small in general with a wide range of disease varieties.The clinical cases are distributed in almost all professional specialties.With the increase in the number of patients with congenital deformities of the hand or upper limb,as well as the continuous improvement in the level of diagnosis and treatment,especially the rapid improvement in the level of genetic testing and related technologies,rare diseases related to the field of hand surgery have gradually been recognized,diagnosed and treated.These patients are characterized by heavy hand and limb deformities,severe functional impact,involvement of many tissues and organs,low morbidity,and are often associated with congenital development or birth defects.In recent years,with the increasing level of awareness of hand surgeons about related rare diseases,more and more related disorders have gradually entered the clinical practice of hand surgery.In order to stimulate the attention and participation of medical personnel in the field of hand surgery,and to improve the overall level of the treatment of rare diseases related to hand surgery in our country,this issue of Hand Surgery has set up the column of Hand Surgery and Rare Diseases while inviting some of the leading units of clinical and research work and five monographs from three medical institutions to introduce their respective clinical or research experience,covering some of the rare diseases related to hand surgery,and the content of which is related to the clinical and research experiences.The content involves morphological research,clinical diagnosis,basic ideas of medical or surgical treatment,and other research or treatment experiences of some rare diseases related to hand surgery,in order to improve the level of hand surgery clinicians'knowledge of rare diseases,especially the concepts of multidisciplinary cooperation,clinical and basic research,medical treatment,surgical treatment(pre-operative,operative,post-operative),psychological treatment,rehabilitation treatment,social integration and other integrated treatments.
关键词：手畸形先天性手罕见病
分类号：R682.1(骨科学（运动系疾病、矫形外科学）)
论文发表日期：2025-08-19
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：3( 673-675 )
英文信息