发育性髋关节发育不良易感基因的研究进展

Research progress on susceptible genes of developmental dysplasia of the hip

摘要:

发育性髋关节发育不良(developmental dysplasia of the hip, DDH)是最常见的先天性畸形之一，具有广泛的髋关节解剖异常，其特征是髋臼轻度或不完全形成，导致股骨近端继发畸形和不可恢复的髋关节脱位，是成年人髋关节骨性关节炎的主要原因。遗传和环境因素都被认为在 DDH 的发病机制中起着重要作用，但是迄今为止，DDH 的明确致病基因和发病机制仍不清楚。临床研究始于上世纪五十年代，基于 Graf 静态超声检查法及 Harcker 动态超声检查法等，对 DDH 有了进一步的了解。 基因研究从本世纪初开始。本文通过 PubMed 数据库 MeSH 主题词“发育性髋关节发育不良”/“先天性”/“遗传学”/“基因”等检索，就 DDH 易感基因研究和进展进行文献综述。

Abstract:

Developmental dysplasia of the hip (DDH) is one of the most common congenital malformations, with extensive anatomical abnormalities of the hip, characterized by mild or incomplete formation of the acetabulum, leading to secondary deformities of the proximal femur and non-recoverable dislocation of the hip, which is a major cause of hip osteoarthritis in adults. Although some genetic and environ- mental factors have been considered related to the DDH, the definite pathogenic gene and pathogenesis of DDH remain unclear. Active clin- ical studies began in the 1950s, involving Graf static ultrasound and Harcker dynamic ultrasound to provide a further understanding of DDH, while genetic research began in the early 2000 s. In this paper, we conducted a PubMed MeSH search for "developmental hip dyspla- sia" / " congenital " / " genetics " / " genes "to review the research and progress of DDH susceptibility genes.