[生长激素治疗特发性矮小儿童的遗传机制及疗效探讨]。

Q3 Medicine
Mireguli Mamat
{"title":"[生长激素治疗特发性矮小儿童的遗传机制及疗效探讨]。","authors":"Mireguli Mamat","doi":"10.7499/j.issn.1008-8830.2408040","DOIUrl":null,"url":null,"abstract":"<p><p>Idiopathic short stature (ISS) is a term that encompasses a group of short stature disorders with unknown etiology. The genetic factors associated with ISS are complex, and the known genetic mechanisms include alterations in hormones, hormone receptors, or related pathways, defects in fundamental cellular processes (such as intracellular signaling pathways and transcriptional regulation), issues with extracellular matrix or paracrine signaling, as well as genetic variations in the genes encoding these proteins. Recombinant human growth hormone (rhGH) therapy is currently an effective clinical method for improving height in children with ISS. However, the efficacy of rhGH treatment on ISS varies among children with different genetic mechanisms. This paper analyzes and elucidates the genetic mechanisms of ISS and the effects of rhGH on ISS based on existing clinical research, aiming to enhance the understanding of ISS and provide references for improving the height of these children.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"26 12","pages":"1255-1260"},"PeriodicalIF":0.0000,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11684827/pdf/","citationCount":"0","resultStr":"{\"title\":\"[Discussion on the genetic mechanisms and efficacy of growth hormone therapy in children with idiopathic short stature].\",\"authors\":\"Mireguli Mamat\",\"doi\":\"10.7499/j.issn.1008-8830.2408040\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Idiopathic short stature (ISS) is a term that encompasses a group of short stature disorders with unknown etiology. The genetic factors associated with ISS are complex, and the known genetic mechanisms include alterations in hormones, hormone receptors, or related pathways, defects in fundamental cellular processes (such as intracellular signaling pathways and transcriptional regulation), issues with extracellular matrix or paracrine signaling, as well as genetic variations in the genes encoding these proteins. Recombinant human growth hormone (rhGH) therapy is currently an effective clinical method for improving height in children with ISS. However, the efficacy of rhGH treatment on ISS varies among children with different genetic mechanisms. This paper analyzes and elucidates the genetic mechanisms of ISS and the effects of rhGH on ISS based on existing clinical research, aiming to enhance the understanding of ISS and provide references for improving the height of these children.</p>\",\"PeriodicalId\":39792,\"journal\":{\"name\":\"中国当代儿科杂志\",\"volume\":\"26 12\",\"pages\":\"1255-1260\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-12-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11684827/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"中国当代儿科杂志\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.7499/j.issn.1008-8830.2408040\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"中国当代儿科杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7499/j.issn.1008-8830.2408040","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

摘要

特发性身材矮小(ISS)是一个术语,包括一组病因不明的身材矮小疾病。与ISS相关的遗传因素是复杂的,已知的遗传机制包括激素、激素受体或相关途径的改变,基本细胞过程的缺陷(如细胞内信号通路和转录调节),细胞外基质或旁分泌信号的问题,以及编码这些蛋白质的基因的遗传变异。重组人生长激素(rhGH)治疗是目前改善ISS患儿身高的有效临床方法。然而,rhGH治疗ISS的疗效在不同遗传机制的儿童中存在差异。本文在现有临床研究的基础上,对ISS的遗传机制以及rhGH对ISS的影响进行分析和阐述,旨在增进对ISS的认识,为提高这类儿童的身高提供参考。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Discussion on the genetic mechanisms and efficacy of growth hormone therapy in children with idiopathic short stature].

Idiopathic short stature (ISS) is a term that encompasses a group of short stature disorders with unknown etiology. The genetic factors associated with ISS are complex, and the known genetic mechanisms include alterations in hormones, hormone receptors, or related pathways, defects in fundamental cellular processes (such as intracellular signaling pathways and transcriptional regulation), issues with extracellular matrix or paracrine signaling, as well as genetic variations in the genes encoding these proteins. Recombinant human growth hormone (rhGH) therapy is currently an effective clinical method for improving height in children with ISS. However, the efficacy of rhGH treatment on ISS varies among children with different genetic mechanisms. This paper analyzes and elucidates the genetic mechanisms of ISS and the effects of rhGH on ISS based on existing clinical research, aiming to enhance the understanding of ISS and provide references for improving the height of these children.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
中国当代儿科杂志
中国当代儿科杂志 Medicine-Pediatrics, Perinatology and Child Health
CiteScore
1.50
自引率
0.00%
发文量
5006
期刊介绍: The Chinese Journal of Contemporary Pediatrics (CJCP) is a peer-reviewed open access periodical in the field of pediatrics that is sponsored by the Central South University/Xiangya Hospital of Central South University and under the auspices of the Ministry of Education of China. It is cited as a source in the scientific and technological papers of Chinese journals, the Chinese Science Citation Database (CSCD), and is one of the core Chinese periodicals in the Peking University Library. CJCP has been indexed by MEDLINE/PubMed/PMC of the American National Library, American Chemical Abstracts (CA), Holland Medical Abstracts (EM), Western Pacific Region Index Medicus (WPRIM), Scopus and EBSCO. It is a monthly periodical published on the 15th of every month, and is distributed both at home and overseas. The Chinese series publication number is CN 43-1301/R;ISSN 1008-8830. The tenet of CJCP is to “reflect the latest advances and be open to the world”. The periodical reports the most recent advances in the contemporary pediatric field. The majority of the readership is pediatric doctors and researchers.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信