遗传性儿童罕见病诊断相关技术最小数据集构建及儿童罕见病筛查、预防和治疗新方向研究现状

doi:10.3877/cma.j.issn.1673-5250.2025.06.003

中华妇幼临床医学杂志(电子版) ›› 2025, Vol. 21 ›› Issue (06) : 620 -627. doi: 10.3877/cma.j.issn.1673-5250.2025.06.003

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遗传性儿童罕见病诊断相关技术最小数据集构建及儿童罕见病筛查、预防和治疗新方向研究现状

王阳¹^,², 李禹琢璞², 刘涛², 肖莉², 于洁²^,^†(

)

¹滨州医学院附属医院血液科，滨州　256603
²重庆医科大学附属儿童医院血液肿瘤科，国家儿童健康与疾病临床医学研究中心，儿童发育疾病研究教育部重点实验室，儿科学重庆市重点实验室，重庆　400014

收稿日期:2025-04-21 修回日期:2025-08-13 出版日期:2025-12-01
通信作者: 于洁

Current research status on construction of minimum data set for diagnosis-related techniques of hereditary pediatric rare diseases and new directions in pediatric rare disease screening, prevention and treatment

Yang Wang¹^,², Yuzhuopu Li², Tao Liu², Li Xiao², Jie Yu²^,^†()

¹Department of Hematology, Binzhou Medical University Hospital, Binzhou 256603, Shandong Province, China
²Department of Hematology and Oncology, Children′s Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders Research, Chongqing Key Laboratory of Pediatrics, Children′s Hospital of Chongqing Medical University, Chongqing 400014, China

Received:2025-04-21 Revised:2025-08-13 Published:2025-12-01
Corresponding author: Jie Yu
Supported by:
Public Welfare Project for Development of Hematological Rare Diseases Discipline in China(xyxthjb-2023-006)

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王阳, 李禹琢璞, 刘涛, 肖莉, 于洁. 遗传性儿童罕见病诊断相关技术最小数据集构建及儿童罕见病筛查、预防和治疗新方向研究现状[J/OL]. 中华妇幼临床医学杂志(电子版), 2025, 21(06): 620-627.

Yang Wang, Yuzhuopu Li, Tao Liu, Li Xiao, Jie Yu. Current research status on construction of minimum data set for diagnosis-related techniques of hereditary pediatric rare diseases and new directions in pediatric rare disease screening, prevention and treatment[J/OL]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2025, 21(06): 620-627.

遗传性儿童罕见病(hereditary pediatric rare diseases)是一类发病率低，但是病种多样，发病机制复杂，病情严重，进展迅速，导致患儿致残、致死率高的单病种疾病。儿童是遗传性罕见病的主要发病群体，>50%遗传性罕见病在儿童期发病。随着医疗卫生水平不断提升，近年对罕见病预防、筛查及诊疗已经成为全球医疗领域的重要挑战。笔者拟聚焦遗传性儿童罕见病诊断相关技术，以及遗传相关儿童罕见病筛查、预防、治疗新方向与最小数据集(MDS)构建的最新研究进展进行阐述，旨在为提升广大临床医师及科研工作者对该类疾病的认识，并推动其精准医疗提供参考。

关键词: 罕见病, 多组学技术, 数据库建设, 诊断与治疗, 最小数据集, 预防, 筛查, 儿童

Hereditary pediatric rare diseases are a class of diseases characterized by low incidence rates but diverse disease types, complex pathogenesis, severe disease conditions, rapid progression, and high disability and mortality rates among affected patients. Children are the primary population affected by hereditary rare diseases, with over 50% of such diseases manifesting during childhood. With the continuous improvement of healthcare standards, the prevention, screening, and diagnosis of rare diseases have become significant challenges in the global medical field in recent years. This paper elucidates the latest research advances in diagnostic technologies related to hereditary pediatric rare diseases, as well as new directions in the screening, prevention, and treatment of these diseases, and the construction of minimal data set (MDS), so as to enhance the understanding of such diseases among clinical physicians and researchers and to provide references for promoting precision medicine.

Key words: Rare diseases, Multi-omics technology, Database construction, Diagnosis and treatment, Minimal data set, Prevention, Screening, Child

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