Chinese Journal of Child Health Care ›› 2022, Vol. 30 ›› Issue (9): 929-932.DOI: 10.11852/zgetbjzz2022-0852

• Professional Forum •     Next Articles

Molecular genetic characteristics of growth plate regulation and physical development disorder

HE Xi-yu, HE Xiu-mei   

  1. Department of Pediatric Medicine,General Hospital of Chinese People's Liberation Army,Beijing 100071,China
  • Received:2022-07-15 Revised:2022-07-21 Published:2022-09-07


何玺玉, 和秀梅   

  1. 中国人民解放军总医院儿科医学部,北京 100071
  • 作者简介:何玺玉(1965-),男,硕士生导师,教授,硕士学位,主要从事儿童遗传内分泌代谢病诊治。

Abstract: The linear growth of children's physique is realized by the proliferation and differentiation of growth plate chondrocytes. The function of growth plate chondrocytes is controlled by intracellular signal pathway, extracellular matrix, growth hormone-insulin-like growth factor axis, secretion factors beside growth plate and external factors (nutritional intake, inflammatory factors). Adult height has great heterogeneity, which is mainly determined by genetic factors and involves multiple functional genes. Growth-related gene variation leads to abnormal differentiation and proliferation of growth plate chondrocytes, which is the genetic and pathological mechanism of children's growth disorders, showing a wide spectrum of clinical manifestations. Understanding the genetic causes and mechanisms of physical development disorders can provide help for precise treatment.

Key words: growth disorder, growth plate, genetic variation, inheritance

摘要: 儿童体格的线性生长是通过对生长板软骨细胞增殖、分化实现的,生长板软骨细胞功能受软骨细胞内信号通路、细胞外基质、生长激素-胰岛素样生长因子轴、生长板旁分泌因子调控及外在因素(营养摄入、炎性因子)的影响。成年终身高具有很大异质性,主要由遗传因素决定,涉及多个功能基因。生长相关基因变异导致生长板软骨细胞分化及增殖异常,是儿童生长障碍疾病的遗传病理机制,呈现广泛的临床表征谱。了解及明确体格发育障碍的遗传病因及机制,能够为精准治疗提供帮助。

关键词: 生长障碍, 生长板, 基因变异, 遗传

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