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

作　　者：李黎[1,2] 熊丰[1] LI Li;XIONG Feng(Department of Endocrinology,Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Ministry of Education Key Laboratory of Child Development and Disorders/Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases,Chongqing 400014,China)

机构地区：[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 [2]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

出　　处：《中国当代儿科杂志》2025年第3期262-268,共7页Chinese Journal of Contemporary Pediatrics

摘　　要：软骨发育不全(achondroplasia,ACH)是儿科临床常见的骨骼发育不良性疾病,其主要致病基因为成纤维细胞生长因子受体3(fibroblast growth factor receptor 3,FGFR3)基因。该基因突变导致四肢长骨、椎骨等骨骼的软骨内成骨过程受损,患儿通常表现为身材矮小,并伴有严重的多系统并发症。ACH的诊断主要依据典型的临床表现、影像学特征和基因检测结果。治疗方面,主要通过药物和外科手术解决身高问题,并对症处理各类并发症。为进一步加深对ACH疾病的认识,该文对ACH的产前诊断、临床诊断以及针对身高问题的治疗方案进行了系统分析与阐述。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 

分 类 号：R726.8[医药卫生—儿科]