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LOGO EPIDEMIOLOGY The reported prevalence of DCTDs is variable, depending on the study methodology, nature of referral bias, and patient ethnicity. 4 It is generally accepted that Sj?gren’s syndrome has the highest prevalence (500 to 3600 per 100,000) and that SLE is much less prevalent (about 15 to 50 per 100,000). Scleroderma, PM, and DM are relatively rare DCTDs, with prevalences less than 10 per 100,000. There is increasing realization that overlap syndromes of scleroderma and myositis are more common than the “pure” forms of the disease. 5,6 The only epidemiology studies of overlap syndromes are from Japan, where the reported prevalence of mixed connective tissue disease (MCTD) was 2.7 per 100,000. 7 The syndrome of MCTD usually occurs as an isolated fi nding, but there are reports of a familial occurrence. 8,9 Unlike SLE, precipitation by sun exposure has not been described in patients with MCTD. Likewise, drug exposure has not been related to the onset of MCTD, although the transient appearance of anti – ribonucleoprotein particle (RNP) antibodies has been seen at the initiation of procainamide therapy. 10 Vinyl chloride 11 and silica 12 are the only environmental agents that have been associated with MCTD. 重叠综合征诊治策略 目 录: 弥漫性结缔组织病 RA, SLE, Scl PM/DM, SS 重叠综合征 未分化结缔组织病 硬皮病重叠综合征 肌炎重叠综合征 混合性结缔组织病 治疗原则 弥漫性结缔组织病 (diffuse connective tissue diseases,DCTDs) 目前已确定有6种 类风湿关节炎(RA) 系统性红斑狼疮(SLE) 硬皮病(Scl) 多发性肌炎(PM) 皮肌炎(DM) 干燥综合征(SS) DCTDs 描述性综合征,尚缺乏诊断的金标准 典型的DCTD容易诊断 疾病早期,常存在一些非特异性表现 -雷诺现象、关节/肌痛、食道功能失调和ANA… -未分化结缔组织病(UCTD) 35%进展为某种DCTD 一种DCTD→另一种DCTD Spliceosomes Nucleosomes Proteasomes 自身免疫应答 snRNP U1 snRNP DCTDs自身免疫的靶抗原-剪接体 *RA33/A2抗体:1/3 RA、SLE、MCTD SLE、Scl、MCTD侵蚀性关节炎 DCTDs自身免疫的靶抗原-核小体 早期、活动,SLE/Scl/MCTD DCTDs自身免疫的靶抗原-蛋白酶体 亚单位抗体-SLE、PM/DM 重叠综合征 未分化结缔组织病 undifferentiated connective tissue disease,UCTD 硬皮病重叠综合征 sclerodema overlaps 肌炎重叠综合征 myositis overlaps 混合性结缔组织病 mixed connective tissue disease,MCTD 诊断需联合分析临床特
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