Sheldon W B, Lurie D P, Maricq H R, Kahaleh M B, DeLustro F A, Gibofsky A, LeRoy E C
Arthritis Rheum. 1981 May;24(5):668-76. doi: 10.1002/art.1780240507.
A kindred is reported which contains 3 siblings with scleroderma, 2 siblings with Raynaud's phenomenon, and 2 first-degree relatives with histories suggestive of connective tissue syndromes. Studies of microvascular morphology and flow, serum endothelial cytotoxic activity, antinuclear antibodies, and HLA haplotypes in 18 relatives and 6 spouses revealed that 4 of 5 affected siblings expressed the HLA-DRw4 antigen, which was also present in 2 of 3 asymptomatic relatives whose serum contained endothelial cytotoxic activity. The evidence for an inherited susceptibility to scleroderma is reviewed.
据报道，有一家族中有3名患硬皮病的兄弟姐妹，2名患雷诺现象的兄弟姐妹，以及2名有结缔组织综合征病史的一级亲属。对18名亲属和6名配偶的微血管形态和血流、血清内皮细胞细胞毒性活性、抗核抗体及HLA单倍型进行研究后发现，5名患病兄弟姐妹中有4名表达了HLA - DRw4抗原，在3名无症状亲属中的2名血清含有内皮细胞细胞毒性活性者体内也存在该抗原。本文对硬皮病遗传易感性的证据进行了综述。
