内分泌代谢罕见病研究现状、机遇与挑战

Current Status,Opportunities and Challenges of Rare Endocrine and Metabolic Diseases

内分泌代谢罕见病涉及种类众多,在临床诊断、发病机制、治疗方法的研究中面临诸多挑战。近年来,针对内分泌代谢罕见病的研究逐步完善,临床诊断水平有了大幅提高,疾病发生的分子机制研究逐渐深入,基于发病机制进行的治疗方法的探索也不断取得突破和进步。本文总结内分泌代谢罕见病的诊断、机制、治疗的研究现状,提出存在问题与挑战,并对未来方向与机遇做出规划和展望。

The rare endocrine and metabolic diseases,due to their varieties,face many challenges in the study of clinical diagnosis,pathogenesis,and treatment.In the past a couple of years,the research on rare endocrine and metabolic diseases has been gradually improved.The diagnosis has made great progress.The research into molecular mechanism of rare endocrine and metabolic diseases has significantly advanced.The effort in exploring the breakthroughs and progress in therapeutic methods based on the pathogenesis of the diseases has also made.This article provides a brief overview of the current status of research into diagnosis,mechanism,and treatment of rare endocrine and metabolic diseases.In addition,the article points out the problems and challenges and proposes future possibilities.