legg - calv - perthes病的遗传学研究综述

IF 0.3 Q4 PEDIATRICS Journal of Pediatrics Review Pub Date : 2021-10-01 DOI:10.32598/JPR.9.4.964.1
Samira Asadollahi, H. Neamatzadeh, N. Namiranian, M. Sobhan
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引用次数: 2

摘要

背景:legg - calv - perthes病(LCPD)是一种青少年髋关节疾病,由股骨头血流受损引起。在严重的LCPD病例中,股骨头可能会出现扁平畸形。此外,如果LCPD在后期被诊断出来,它会导致早期髋关节骨关节炎。LCPD的病因是复杂的,包括遗传和表观遗传因素。目的:本文综述了目前关于这些遗传变异在LCPD发病率中的作用的知识。方法:使用特殊的相关检索词检索已发表的英文文章。结果:该病的遗传原因包括血栓形成因子基因突变,如FV Leiden和抗心磷脂抗体。COL2A1、TRPS1、eNOS基因突变是其他原因。此外,戈谢病或LCPD患者的临床症状可能难以辨别,鉴别诊断是一个挑战。结论:基因检测可用于青少年髋关节疾病的诊断和治疗。
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Genetics of Legg-Calvé-Perthes Disease: A Review Study
Background: Legg-Calvé-Perthes Disease (LCPD), a juvenile hip disorder, is caused by impaired blood flow to the femoral head. In severe LCPD cases, the femoral head may develop a flattening deformity. Furthermore, if LCPD is diagnosed at the later stages, it causes early osteoarthritis of the hip. The etiology of LCPD is complex and embraces both genetic and epigenetic factors. Objectives: This review attempts to summarize the current knowledge on the role of these genetic variants in the incidence of LCPD. Methods: We searched for articles published in English using the special related search terms. Results: The genetic causes of this disease include mutations in the genes of thrombophilia factors, such as FV Leiden and anticardiolipin antibodies. The mutations of COL2A1, TRPS1, eNOS genes are the other causes. Moreover, the clinical symptoms of avascular necrosis may be indiscernible in patients with Gaucher’s disease or LCPD, and the differential diagnosis is a challenge. Conclusions: The results indicated that genetic testing may be useful in diagnosing and managing patients with juvenile hip disorders.
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审稿时长
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