Two cases of spondyloarthritis with dual HLA-B*27 subtype positivity and literature review
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摘要: HLA-B*27亚型双阳性是一种罕见的脊柱关节炎基因表型,该表型可能与脊柱关节炎特定临床表型及疾病严重程度相关。本文报道HLA-B*2704、HLA-B*2705和HLA-B*2704、HLA-B*2702双阳性的2例脊柱关节炎病例,结合文献复习,总结HLA-B*27亚型双阳性脊柱关节炎病例有以下特点:(1)HLA-B*27亚型双阳性以HLA-B*2704为基础亚型,最常见组合为HLA-B*2704、HLA-B*2705同时阳性,保护型亚型HLA-B*2706未能体现保护效应;(2)患者以男性为主,临床表型多为中轴型脊柱关节炎;(3)患者对非甾体抗炎药反应欠佳,肿瘤坏死因子-α(TNF-α)抑制剂治疗应答良好。
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关键词:
- 脊柱关节炎 /
- 双阳性 /
- HLA-B*27亚型 /
- 临床特点
Abstract: HLA-B*27 dual positivity is a rare genetic phenotype in spondyloarthritis and may be associated with specific clinical manifestations and disease severity. This paper reports two cases of spondyloarthritis with dual positivity for HLA-B*2704 and HLA-B*2705, as well as for HLA-B*2704 and HLA-B*2702. Combined with a literature review, the following characteristics of spondyloarthritis with dual HLA-B*27 subtype positivity are summarized: (1) Dual positivity of HLA-B*27 subtypes is based on HLA-B*2704, most commonly presenting as simultaneous positivity for HLA-B*2704 and HLA-B*2705; the protective subtype HLA-B*2706 does not appear to exert a protective effects. (2) Most patients are male, with axial spondyloarthritis as the predominant clinical phenotype. (3) The patients show a poor response to nonsteroidal anti-inflammatory drugs demonstrate a favorable response to TNF-α inhibitors.-
Key words:
- Spondyloarthritis /
- Dual positivity /
- HLA-B*27 subtype /
- Clinical features
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表 1 4例HLA-B*27亚型双阳性SpA患者临床特点
Table 1. Clinical characteristics of 4 patients with HLA-B*27 dual-subtype-positive spondyloarthritis
序号 发病年龄 国籍 性别 亚型 累及部位 家族史 有效治疗 病例1 34 中国 男性 HLA-B*2702 HLA-B*2704 中轴(左骶髂) 无家族史 阿达木单抗 病例2 18 中国 男性 HLA-B*2704 HLA-B*2705 中轴(腰背、双侧骶髂) 无家族史 阿达木单抗 病例3[18] 20 中国 男性 HLA-B*2704 HLA-B*2705 中轴(脊柱)、双髋 母亲有驼背病史(未诊治) 注射用重组人Ⅱ型肿瘤坏死因子受体-抗体融合蛋白 病例4[19] 21 泰国 男性 HLA-B*2704 HLA-B*2706 中轴(腰背)、外周 父亲有AS病史 / 注:“/”表示原始文献未提供相关治疗信息。 -
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