Shibasaki T, Shimada T, Morita T, Sakai O
Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan.
Jpn J Med. 1990 Sep-Oct;29(5):533-6. doi: 10.2169/internalmedicine1962.29.533.
Two family cases of primary biliary cirrhosis (PBC) followed by the existence of autoantibodies such as anti-mitochondrial antibody, anti-nuclear antibody and anti-thyroid antibody are reported. Case O M has typical PBC, however, case H E is complicated by asymptomatic polymyositis. Common haplotypes of human leukocyte antigen (HLA) were observed as A24-Bw61 in the family members of case O M who had autoantibodies. Only the mother of case H E had identical HLA haplotypes such as A2, Aw31, Bw46, Bw61, DRw8, DRw52 and DQw1. From these results, it can be suggested that immunogenetic penetrance might be associated with the occurrence of familial PBC.
报告了两例原发性胆汁性肝硬化（PBC）家族病例，伴有抗线粒体抗体、抗核抗体和抗甲状腺抗体等自身抗体。病例OM患有典型的PBC，然而，病例HE并发无症状性多发性肌炎。在有自身抗体的病例OM家族成员中观察到人类白细胞抗原（HLA）的常见单倍型为A24 - Bw61。只有病例HE的母亲具有相同的HLA单倍型，如A2、Aw31、Bw46、Bw61、DRw8、DRw52和DQw1。从这些结果可以推测，免疫遗传外显率可能与家族性PBC的发生有关。
