Fox R I, Kang H I
Department of Rheumatology, Scripps Clinic and Research Foundation, La Jolla, CA 92037.
Curr Opin Rheumatol. 1992 Dec;4(6):857-61.
The occurrence of autoantibodies in patients with systemic sclerosis has suggested a role for immune dysregulation in this disease. Recent genetic studies have concentrated on the major histocompatibility complex-encoded antigens and found an association of particular HLA-DQ alleles with anticentromere antibodies. Although the role of major histocompatibility complex antigens and autoantibodies in the pathogenesis of systemic sclerosis remains unclear, determination of major histocompatibility complex alleles may have clinical value in identifying patients who are at increased risk for development of pulmonary fibrosis or rapidly advancing skin disease. A variety of environmental factors have been associated with systemic sclerosis-like skin diseases, including silica, vinyl chloride, paraffin, adulterated L-tryptophan, and "toxic" rapeseed oil. It has been suggested that silicone used during breast augmentation may be a risk factor for development of systemic sclerosis, but ascertainment bias in case reporting makes interpretation of these studies difficult. The heterogeneity of clinical features, major histocompatibility complex status, and autoantibody profiles in systemic sclerosis suggest that this disorder may actually be a group of distinct disorders, each of which has its own characteristic genetic and environmental predisposing risk factors.
系统性硬化症患者体内自身抗体的出现提示免疫失调在该疾病中起作用。近期的遗传学研究集中于主要组织相容性复合体编码的抗原，并发现特定的HLA - DQ等位基因与抗着丝点抗体有关。尽管主要组织相容性复合体抗原和自身抗体在系统性硬化症发病机制中的作用仍不明确，但确定主要组织相容性复合体等位基因可能在识别有发生肺纤维化或快速进展性皮肤病风险增加的患者方面具有临床价值。多种环境因素已被证实与系统性硬化症样皮肤病有关，包括二氧化硅、氯乙烯、石蜡、掺杂的L - 色氨酸和“有毒”菜籽油。有人提出隆胸手术中使用的硅胶可能是发生系统性硬化症的一个危险因素，但病例报告中的确定偏倚使得对这些研究的解读变得困难。系统性硬化症临床特征、主要组织相容性复合体状态和自身抗体谱的异质性表明，这种疾病实际上可能是一组不同的疾病，每种疾病都有其自身独特的遗传和环境易感危险因素。
