内分泌代谢罕见病研究现状、机遇与挑战

吴慧潇; 李宗跃; 徐潮; 赵家军

doi:10.12376/j.issn.2097-0501.2023.03.001

内分泌代谢罕见病研究现状、机遇与挑战

doi: 10.12376/j.issn.2097-0501.2023.03.001

吴慧潇^{1, 2, 3},
李宗跃^{1, 2, 3},
徐潮^{1, 2, 3},
赵家军^{1, 2, 3, ,}

1.
内分泌糖脂代谢与脑老化教育部重点实验室山东第一医科大学附属省立医院内分泌代谢病科，济南 250021
2.
山东省糖尿病与代谢疾病临床医学研究中心，济南 250021
3.
山东省内分泌代谢性疾病干细胞与基因治疗工程研究中心，济南 250021

基金项目:

国家自然科学基金 81974124

详细信息

通信作者:
赵家军，E-mail：jjzhao@sdu.edu.cn

中图分类号: R58
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- 被引次数: 0
出版历程
- 收稿日期: 2023-06-11
- 录用日期: 2023-06-26

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

WU Huixiao^{1, 2, 3},
LI Zongyue^{1, 2, 3},
XU Chao^{1, 2, 3},
ZHAO Jiajun^{1, 2, 3
, ,}

1.
Key Laboratory of Endocrine Glucose & Lipids Metabolism and Brain Aging, Ministry of Education; Department of Endocrinology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, China
2.
Shandong Key Laboratory of Endocrinology and Lipid Metabolism in Shandong Province, Jinan 250021, China
3.
Research Center of Stem Cell and Engineering Gene Therapy for Endocrine and Metabolic Diseases in Shandong Province, Jinan 250021, China

Funding:

National Natural Science Foundation of China 81974124

More Information

Corresponding author: ZHAO Jiajun, E-mail: jjzhao@sdu.edu.cn

摘要

摘要: 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。
- 内分泌代谢罕见病 /
- 诊断 /
- 机制 /
- 治疗
Abstract: 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.
- rare endocrine and metabolic diseases /
- diagnosis /
- mechanism /
- treatment
注释:

作者贡献：赵家军牵头撰写；吴慧潇、李宗跃贡献相同，负责文献综述及文章撰写；徐潮负责客观指导及文章审校。

利益冲突：所有作者均声明不存在利益冲突。

HTML全文

表 1 内分泌代谢罕见病分类

Table 1. The classification of rare endocine and metabolic diseases

分类	罕见病
垂体/肾上腺/性腺	自身免疫性垂体炎、莱伦氏综合征、先天性肾上腺发育不良、特发性低促性腺激素性性腺功能减退症、卡尔曼综合征、Prader-Willi综合征
酶缺乏	白化病、精氨酸酶缺乏症、β-酮硫解酶缺乏症、瓜氨酸血症、全羧化酶合成酶缺乏症、苯丙酮尿症、脑氨酸转移酶缺乏症、高苯丙氨酸血症、黏多糖贮积症
骨代谢	低碱性磷酸酶血症、低磷性佝偻病、McCune-Albrigh综合征、成骨不全症
糖脂代谢	法布雷病、戈谢病、尼曼匹克病、自身免疫性胰岛素受体病、先天性高胰岛素性低血糖症、糖原累积病、半乳糖血症、遗传性果糖不耐受症、枫糖尿症、新生儿糖尿病、家族性高胆固醇血症、先天性胆汁酸合成障碍
离子通道病	Gitelman综合征、遗传性低镁血症
其他	肝豆状核变性、同型半胱氨酸血症、多发性内分泌腺瘤综合征、POEMS综合征、Silver-Russell综合征

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