Zhao Zhenhui,Xiong Zhu,Zeng Shuaidan,et al.Research progress on the genetics and molecular regulatory mechanisms of developmental hip dysplasia[J].Journal of Clinical Pediatric Surgery,2023,22(11):1095-1100.[doi:10.3760/cma.j.cn101785-202210022-019]
发育性髋关节发育不良遗传学及分子调控机制的研究进展
- Title:
- Research progress on the genetics and molecular regulatory mechanisms of developmental hip dysplasia
- 关键词:
- 发育性髋关节发育不良; 遗传学; 发病机制
- Keywords:
- Developmental Dysplasia of the Hip; Genetics; Pathogenesis
- 摘要:
- 发育性髋关节发育不良(developmental dysplasia of the hip,DDH)是儿童骨科常见的骨骼肌肉畸形,主要临床表现包括髋关节不稳定、半脱位甚至完全脱位。部分轻度的DDH可自行缓解;但其他未经早期正确诊治的DDH会出现进行性加重,导致髋部疼痛、活动受限、步态异常,最终可致成年期退行性关节炎。DDH可能为先天因素与后天环境因素共同作用所致,但DDH确切的遗传学模式、发病机理以及DDH发生、发展过程中的具体分子调控机制尚不清楚。本文对近年来DDH遗传学研究及其发病相关的分子调控机制研究进行简要归纳与总结。
- Abstract:
- Developmental dysplasia of the hip (DDH) is one of the common musculoskeletal malformations in pediatric orthopedics.Its abnormalities mainly include instability,subluxation and even a complete dislocation of hip joint.Mild dysplasia may disappear by itself.However,other hip deformities misdiagnosed and improperly treated during an early stage worsen progressively,leading to hip pain,limited movement,abnormal gait and ultimately adult degenerative arthritis.DDH may be caused by congenital predisposing and acquired environmental factors.However,its exact genetic model,pathogenesis and specific molecular regulation mechanism in the occurrence and development of DDH have remained elusive.Only through clarifying the specific pathogenesis of DDH disease,clinicians gain a deeper understanding of the disease to achieve its early diagnosis and timely treatment for better outcomes.This review summarized the latest genetic researches of DDH and the molecular regulatory mechanism related to its pathogenesis.
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备注/Memo
收稿日期:2022-10-14。
基金项目:广东省高水平医院建设专项经费资助(ynkt2022-zz09)
通讯作者:熊竹,Email:bamboobear@163.com