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中文摘要：
大骨节病是一种地方性、畸形性骨关节病,至今原因未明,目前以我国西部地区最重,尚无有效治疗措施。本文依据国内外有关研究,总结分析了大骨节病三种病因假说的研究进展及其尚待解决的问题,结合作者及其研究团队近年来的研究进展,提出大骨节病除经典的软骨细胞坏死外还表现有软骨细胞过度凋亡和“去分化”,大骨节病软骨细胞差异表达基因、血清蛋白表达谱及短串联重复序列多态性不同于病区内外正常人与骨关节病。确定大骨节病软骨细胞坏死发生的基因与蛋白标志物,以及何种环境因素如何与大骨节病易感基因相互作用而选择性的损伤深层软骨细胞及其干预措施,是未来大骨节病病因发病机制研究的重要目标。
英文摘要：
Kashin-Beck disease（KBD） is an endemic and deforming osteochondropathy and its etiology remains unclear up to now.The prevalence of the disease is the severest in the western China and the effective methods for prevention and cure still need further study.This article summarized the progression and problems to be investigated for three main hypotheses of KBD by reviewing literature published at home and abroad.Integrating with his own research work and his team members,the author suggested that excessive apoptosis and dedifferentiation of chondrocytes besides classic chondrocytic necrosis in KBD growth plate and articular cartilage,differences of gene expression profiles in cartilage and peripheral blood mononuclear cells,proteomic markers and short tandem repeat polymorphism in KBD patients were significantly different from those of the healthy subjects from both KBD-areas and non KBD-areas,and those of osteoarthritis patients.The important objectives in the future are to understand ① the gene and proteomic markers for chondrocytic necrosis in KBD,② environmental factors that cause the damage to KBD chondrocytes,③ the way it selectively impairs chondrocytes in the deep zone of growth and joint cartilage by interacting with susceptible gene related to KBD,and ④ effective intervention methods.
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