中国当代儿科杂志2025，Vol.27Issue(3)：262-268,7.DOI:10.7499/j.issn.1008-8830.2410107
早期诊断和治疗对于改善软骨发育不全患儿身高结局的意义和思考
Significance and considerations of early diagnosis and treatment for improving height outcomes in children with achondroplasia
李黎 1熊丰2
作者信息
- 1. 重庆医科大学附属儿童医院内分泌科/国家儿童健康与疾病临床医学研究中心/儿童发育疾病研究教育部重点实验室/儿童代谢与炎症性疾病重庆市重点实验室,重庆 400014||重庆医科大学附属儿童医院江西医院综合内科,江西 南昌 330006
- 2. 重庆医科大学附属儿童医院内分泌科/国家儿童健康与疾病临床医学研究中心/儿童发育疾病研究教育部重点实验室/儿童代谢与炎症性疾病重庆市重点实验室,重庆 400014
- 折叠
摘要
Abstract
Achondroplasia(ACH)is a common skeletal dysplasia in children,primarily caused by mutations in the fibroblast growth factor receptor 3(FGFR3)gene.These mutations disrupt the process of endochondral ossification in different types of bones,including long bones of the limbs and vertebrae.Children with ACH typically present with short stature and may experience severe multi-system complications.The diagnosis of ACH is based on typical clinical manifestations,imaging features,and genetic testing results.Treatment options mainly include pharmacological interventions and surgical procedures aimed at improving height,as well as symptomatic management for associated complications.This article discusses both prenatal and clinical diagnostic approaches for ACH,as well as treatment strategies focused on enhancing height,aiming to deepen the understanding of this condition.关键词
软骨发育不全/早期诊断/早期治疗/生长激素/身高/儿童Key words
Achondroplasia/Early diagnosis/Early treatment/Growth hormone/Height/Child引用本文复制引用
李黎,熊丰..早期诊断和治疗对于改善软骨发育不全患儿身高结局的意义和思考[J].中国当代儿科杂志,2025,27(3):262-268,7.
