Azuno Y, Kaku K, Shino K, Kamei S, Nishimura M, Okafuji K, Inoue Y, Matsumoto N, Kaneko T
Third Department of Internal Medicine, Yamaguchi University School of Medicine, Ube.
Intern Med. 1994 Dec;33(12):752-8. doi: 10.2169/internalmedicine.33.752.
We describe two siblings affected by chronic relapsing thrombotic thrombocytopenic purpura from infancy. The elder brother, a 12-year-old boy had 50 such episodes characterized by acute onset of fever, headache, drowsiness, vomiting, dark urine, thrombocytopenia and anemia. The younger sister, a 6-year-old girl, had 8 episodes with the same clinical manifestations. Petechiae and ecchymoses on the extremities were present throughout their lives. Furthermore, anemia with evidence of red blood cell fragmentation and thrombocytopenia were present chronically. Periodical transfusion of frozen fresh plasma prevented recurrent episodes. These cases suggest that there is a congenital variant of thrombotic thrombocytopenic purpura.
我们描述了两名自婴儿期起就受慢性复发性血栓性血小板减少性紫癜影响的兄弟姐妹。哥哥是一名12岁男孩，有50次此类发作，其特征为急性起病，伴有发热、头痛、嗜睡、呕吐、深色尿、血小板减少和贫血。妹妹是一名6岁女孩，有8次发作，临床表现相同。他们四肢终生都有瘀点和瘀斑。此外，长期存在伴有红细胞破碎证据的贫血和血小板减少。定期输注冷冻新鲜血浆可预防复发。这些病例提示存在血栓性血小板减少性紫癜的先天性变异型。
