摘要目的：通过检测大骨节病儿童软骨细胞中白细胞介素-1β（IL-1β）、白细胞介素-6（IL-6）、肿瘤坏死因子-α（TNF-α）的表达，探讨细胞因子与大骨节病（KBD）之间的关系。方法5例KBD儿童（KBD组）手指软骨组织来自西安交通大学医学院地方病研究所保存的大骨节病患儿尸检样本；5例正常儿童（对照组）手指软骨组织来自陕西省西安市非KBD病区，其中3例来自车祸死亡儿童，2例为先天6指畸形手术标本。采用免疫组织化学染色的方法，分别检测软骨中IL-1β、IL-6、TNF-α的表达；并将关节软骨细胞分层（表层、中层、深层），分析软骨各层中IL-1β、IL-6、TNF-α的表达。结果 KBD组关节软骨表层、中层、深层IL-1β阳性软骨细胞密度（63.50±7.19、54.75±5.50、66.20±9.91）均高于对照组（5.75±1.26、0.00±0.00、0.00±0.00，P均<0.05）；KBD组关节软骨表层IL-6阳性软骨细胞密度（55.25±6.24）高于对照组（0.00±0.00，P<0.05）；KBD组关节软骨表层、中层、深层TNF-α阳性软骨细胞密度（33.25±6.50、3.75±0.96、29.80±1.92）均高于对照组（3.74±0.82、0.00±0.00、0.00±0.00，P均<0.05）。结论 KBD儿童软骨细胞中IL-1β，IL-6和TNF-α表达显著升高，细胞因子的过量表达可能参与KBD软骨细胞死亡与软骨破坏过程。

abstractsObjective To investigate the expressions of interleukin-1β(IL-1β), interleukin-6(IL-6) and tumor necrosis factor alpha(TNF-α) in cartilage of children with Kashin-Beck disease(KBD) in order to provide a possible mechanism of the disease. Methods Articular cartilage tissues of 5 KBD children(KBD group) were selected from KBD children autopsy samples keeping in Institute of Endemic Diseases, Medical School of Xi’an Jiaotong University; articular cartilage tissues of 5 normal children ( control group ) were selected from non-KBD areas of Shaanxi Province, three cases were from accident death children, two cases were the samples of congential malformation of six finger. Expressions of IL-1β, IL-6 and TNF-α in the cartilage were detected using immunohistochemistry; the cells of articular cartilage were divided into three areas (superficial zone, middle zone and deep zone) to analyze the expressions of IL-1β, IL-6 and TNF-α. Results The expressions of IL-1β in superficial zone , middle zone and deep zone of articular cartilage of KBD group (63.50 ± 7.19, 54.75 ± 5.50, 66.20 ± 9.91) were significantly higher than those of control group(5.75 ± 1.26, 0.00 ± 0.00, 0.00 ± 0.00, all P<0.05). The expression of IL-6 in superficial zone of articular cartilage in KBD group(55.25 ± 6.24) was significantly higher than that of control group(0.00 ± 0.00, P<0.05). The expressions of TNF-αin all zone of articular cartilage of KBD group(33.25 ± 6.50, 3.75 ± 0.96, 29.80 ± 1.92) were significantly higher than those of control group (3.74 ± 0.82, 0.00 ± 0.00, 0.00 ± 0.00, all P < 0.05). Conclusion The levels of IL-1β, IL-6 and TNF-α are up-regulated in articular cartilage of KBD children, suggesting that cytokines may play an important role in matrix degradation in KBD children cartilage.