摘要
矮身材是儿科内分泌与遗传代谢领域的常见就诊原因,近年来其遗传性病因日益受到重视。任何影响身高增长相关基因的缺陷均可能导致矮身材,这些缺陷主要通过干扰生长板软骨细胞的正常增殖与分化来实现。其中,生长激素-胰岛素样生长因子轴的功能异常是经典机制,但营养状态、炎性因子、旁分泌信号、细胞外基质以及细胞内信号通路等多种因素也共同参与调控。此类患儿在临床上多伴有身体比例异常、阳性家族史或多系统畸形及功能异常,且特定基因变异常对应特征性表型。因此,系统收集表型信息并结合遗传学检测,已成为实现基因相关矮身材精准诊疗的核心策略。
Short stature is a common reason for consultation in the field of pediatric endocrinology and genetic metabolism,and its genetic etiology has garnered increasing attention in recent years.Defects in any genes involved in the process of height growth can lead to short stature,primarily by disrupting the normal proliferation and differentiation of growth plate chondrocytes.While dysfunction of the growth hormone-insulin-like growth factor(GH-IGF)axis represents a classic mechanism,multiple other factors—such as nutritional status,inflammatory cytokines,paracrine signaling,extracellular matrix,and intracellular signaling pathways-are also jointly involved in its regulation.Affected children often present clinically with abnormal body proportions,a positive family history,multisystem malformations or functional impairments,with specific genetic variants frequently correlating with distinct phenotypic profiles.Therefore,the systematic collection of phenotypic information combined with genetic testing has become a core strategy for achieving precision diagnosis and treatment of genetic-related short stature.
作者
王依柔
王秀敏
WANG Yirou;WANG Xiumin(Department of Endocrinology,Genetics and Metabolism,Shanghai Childrens Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China;Department of Molecular Genetic Diagnosis,Shanghai Childrens Medical Center,Shanghai Jiao Tong University School of Medicine)
出处
《中国儿童保健杂志》
北大核心
2025年第12期1287-1290,1297,共5页
Chinese Journal of Child Health Care
基金
国家自然科学基金(82170910)
上海儿童脑与发育科学重点实验室(24dz2260100)
国家临床重点专科建设项目(10000015Z155080000004)
国家重点研发计划(2022YFC2703102)。
关键词
矮身材
生长板
遗传病
致病性变异
分子诊断
short stature
growth plate
genetic disorder
pathogenic variants
molecular diagnosis
