Research progress in the prevention and treatment of developmental dysplasia of the hip / 中华骨科杂志

ABSTRACT

Developmental dysplasia of the hip (DDH) is one of the most common orthopaedic diseases in children. Due to the complexity of risk factors, the molecular regulatory mechanism of its occurrence and development is still not clear. Understanding the molecular regulatory mechanism and morphological changes of DDH is of great significance for the exploration of the mechanism, the formulation of early screening, diagnosis and treatment strategies. Recently, with the development of development biology, molecular biology, preclinical medicine and clinical medicine, the risk factors and potential mechanism of DDH have been investigated deeply. Here, we reviewed the formation of anatomical structure during hip joint development, genes expression and signal pathways involved in endochondral ossification. Further, we analyzed the possible development stages, which might lead to the developmental instability. Previous studies have shown that the interaction between the femoral head and the acetabulum in the embryonic development of the hip joint determines the morphogenesis of the hip joint. The embryonic cartilage of the hip joint begins to develop at 5 to 12 weeks after fertilization, followed by the development of the primary and secondary ossification processes to form the hip joint with a complete structure. Transcription factors of SOX9 and RUNX2, which regulate chondrogenesis and osteogenesis during bone development, are mediated by HIF, WNT, FGF and PTHRP signal pathways. In addition, there are 28 potential pathogenic genes of DDH identified by clinical DDH case gene detection techniques, including whole genome sequencing and whole exon sequencing, which are of great significance for revealing the molecular mechanism of DDH occurrence. In addition, we summarized the current clinical screening methods, risk factors, diagnosis and treatment of DDH. Finally, we discussed the remaining challenges and possible future directions for DDH research and interventions, which may provide new ideas for the mechanism research, and clinical diagnosis and treatment strategies for DDH.