特发性矮小症多组学生物标志物的研究进展  

Advances in biomarkers related to multi-omics of idiopathic short stature

作　　者：冯鑫(综述) 王春林(审校)[1] Feng Xin;Wang Chunlin(Department of Pediatrics,the First Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou 310003,China)

机构地区：[1]浙江大学医学院附属第一医院儿科,杭州310003

出　　处：《国际儿科学杂志》2023年第11期746-749,共4页International Journal of Pediatrics

基　　金：浙江大学横向科研基金项目(491010-I41902)。

摘　　要：特发性矮小症(idiopathic short stature, ISS)是一类没有明确病因的矮小症的统称, 其病因存在异质性和复杂性, 多为遗传和环境因素共同作用所致。由于缺乏特异性的症状、体征以及生物标志物, 目前ISS主要依靠排除性诊断。近年来, 随着各种高通量检测技术的发展, 与ISS相关的转录组学、蛋白质组学、代谢组学、微生物组学等研究逐渐成为热点, 为阐明ISS的病因、进行早期诊断和指导治疗提供了新的思路。该文综述了与多组学相关的生物标志物在ISS的发病机制和早期诊断中的研究进展。Idiopathic short stature(ISS)is a group of short stature with unclear etiology and pathogenesis,of which the cause is heterogeneous and complex,primarily due to a combination of genetic and environmental factors.ISS is generally exclusionary diagnosis due to the lack of specific symptoms,signs and biomarkers.Recently,with the development of various high-throughput detection technologies,the study of transcriptomics,proteomics,metabolomics,and microbiomics related to ISS has gradually become a hot topic,providing new ideas for elucidating the etiology,making an early diagnosis,and guiding treatment of ISS.In this paper,advances in the pathogenesis and early diagnosis of ISS by biomarkers associated with multi-omics are reviewed.

关 键 词：儿童 特发性矮小症 生物标志物 多组学 发病机制 早期诊断 

分 类 号：R725.8[医药卫生—儿科]