Zdrojewicz Z, Budzyń-Kozioł E, Puławska J
Katedra i Klinika Endokrynologii i Diabetologii, Akademii Medycznej we Wrocławiu.
Postepy Hig Med Dosw. 1999;53(5):751-66.
Some patients have features of more than one rheumatic disease and thus do not fit into traditional classification. Patients with combination of clinical finding similar to those of systemic lupus erythematosus (SLE), progressive systemic sclerosis (PSS), polymyositis, rheumatoid arthritis (RA) and with unusually high titers of circulating antinuclear antibody with specificity for nuclear ribonucleoprotein (RNP) are considered to have mixed connective tissue disease (MCTD). The overlap was described by Sharp and colleagues in 1972. During the post 20 years many studies exposed the clinical correlates of this antibody system (now called anti U1RNP). Controversy arose about whether MCTD was a distinct entity or would be better defined as subset of SLE. Anti RNP antibodies precipitate three proteins uniquely associated with U1RNP. Clinical correlates considered to be distinctive of MCTD are associated with 68 kD antigen specificity. Its to be expected that T cells receptors and HLA molecules are involved in the generation of these antibodies. Several observations have indicated, that 68 kD anti U1RNP antibody response in associated with HLA DR 4 and DR2 phenotype. Several studies have pointed a role of viruses initiating an antibody response against URNPs. Initial observations of MCTD suggested infrequent renal disease, a good response to corticosteroids and favourable prognosis. Future study has shown that some patients may require aggressive and prolonged pharmacologic therapy and that pulmonary involvement is common. Pulmonary hypertension associated proliferative vascular lesions may be serious complication with not always favourable prognosis.
一些患者具有不止一种风湿性疾病的特征,因此不符合传统分类。具有类似于系统性红斑狼疮(SLE)、进行性系统性硬化症(PSS)、多发性肌炎、类风湿关节炎(RA)的临床表现组合,且循环抗核抗体对核核糖核蛋白(RNP)具有异常高滴度特异性的患者,被认为患有混合性结缔组织病(MCTD)。这种重叠情况由夏普及其同事在1972年进行了描述。在随后的20年里,许多研究揭示了该抗体系统(现称为抗U1RNP)的临床相关性。关于MCTD是一种独特的疾病实体还是应更好地定义为SLE的一个亚组,引发了争议。抗RNP抗体沉淀出三种与U1RNP独特相关的蛋白质。被认为是MCTD独特特征的临床相关性与68kD抗原特异性相关。可以预期T细胞受体和HLA分子参与了这些抗体的产生。多项观察表明,68kD抗U1RNP抗体反应与HLA DR4和DR2表型相关。多项研究指出病毒在引发针对URNP的抗体反应中所起的作用。对MCTD的初步观察表明肾脏疾病不常见,对皮质类固醇反应良好且预后良好。未来的研究表明,一些患者可能需要积极且长期的药物治疗,并且肺部受累很常见。与肺动脉高压相关的增殖性血管病变可能是严重的并发症,预后并不总是良好。