特发性矮身材患儿的遗传机制及生长激素疗效探讨

doi:10.7499/j.issn.1008-8830.2408040

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摘要特发性矮身材（idiopathic short stature, ISS）是一组病因未明的矮小疾病的统称。ISS遗传因素复杂，目前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（细胞内信号通路、转录调节）、细胞外基质或旁分泌信号转导的缺陷，以及编码这些蛋白的基因变异等。重组人生长激素（recombinant human growth hormone, rhGH）替代治疗是目前临床用于改善ISS患儿身高的有效方法。但不同遗传机制的患儿应用rhGH治疗的效果存在差异。该文基于现有临床研究，对ISS的遗传机制以及rhGH的应用效果进行了分析与阐述，以提高对ISS的疾病认知，为改善ISS患儿身高提供参考。

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	米热古丽·买买提

关键词 ：特发性矮身材, 基因变异, 重组人生长激素, 儿童

Abstract：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.

Key words： Idiopathic short stature Genetic variation Recombinant human growth hormone Child

收稿日期: 2024-08-08

作者简介: 米热古丽·买买提，女，博士，主任医师，教授。Email：milikita17@aliyun.com；

引用本文:

米热古丽·买买提. 特发性矮身材患儿的遗传机制及生长激素疗效探讨[J]. 中国当代儿科杂志, 2024, 26(12): 1255-1260.

MAMAT Mireguli. Discussion on the genetic mechanisms and efficacy of growth hormone therapy in children with idiopathic short stature[J]. CJCP, 2024, 26(12): 1255-1260.

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http://www.zgddek.com/CN/10.7499/j.issn.1008-8830.2408040 或 http://www.zgddek.com/CN/Y2024/V26/I12/1255

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