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系统性硬化症患者亲属及配偶中的抗核抗体

Antinuclear antibodies in the relatives and spouses of patients with systemic sclerosis.

作者信息

Maddison P J, Skinner R P, Pereira R S, Black C M, Ansell B M, Jayson M I, Rowell N R, Welsh K I

出版信息

Ann Rheum Dis. 1986 Oct;45(10):793-9. doi: 10.1136/ard.45.10.793.

Abstract

The families of 65 patients with systemic sclerosis were examined clinically and serum samples from each subject were tested for antinuclear antibodies (ANA) by immunofluorescence on HEp2 cells and for precipitating antibodies to soluble cellular antigens including Scl-70. Of 217 blood relatives, 58 (27%) had ANA (42 speckled, 13 nucleolar, one centromere, two homogeneous); 22 (10%) had precipitins, one anti-Scl-70, one anti-PM-Scl, one anti-nRNP, two anti-Ro(SSA), the remainder unidentified). Family members tended to share ANA patterns. Of 38 spouses, nine (24%) had ANA (all speckled) and two showed unidentified precipitins. This compares with an incidence of ANA and precipitins in a control population of 8% and 1% respectively. Antibodies were more common in female than male relatives (particularly in mothers and sisters of probands). Twenty one of the 58 family members with ANA had clinical features of connective tissue disease; the remainder were asymptomatic. The presence of genetic factors influencing autoimmunity is suggested by the incidence of autoantibodies in first degree relatives. Similar observations in spouses, however, indicate that environmental factors may also have a role in these immune abnormalities.

摘要

对65例系统性硬化症患者的家族成员进行了临床检查,并采用免疫荧光法检测了HEp2细胞上的抗核抗体(ANA),以及针对包括Scl-70在内的可溶性细胞抗原的沉淀抗体。在217名血亲中,58人(27%)有ANA(42人呈斑点型,13人呈核仁型,1人呈着丝点型,2人呈均质型);22人(10%)有沉淀素,1人抗Scl-70,1人抗PM-Scl,1人抗nRNP,2人抗Ro(SSA),其余未明确。家庭成员倾向于共享ANA模式。在38名配偶中,9人(24%)有ANA(均为斑点型),2人有未明确的沉淀素。相比之下,对照人群中ANA和沉淀素的发生率分别为8%和1%。抗体在女性亲属中比男性亲属更常见(尤其是先证者的母亲和姐妹)。58名有ANA的家族成员中有21人有结缔组织病的临床特征;其余无症状。一级亲属中自身抗体的发生率提示存在影响自身免疫的遗传因素。然而,配偶中的类似观察结果表明环境因素在这些免疫异常中也可能起作用。

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