Hanano M, Takahashi H, Itoh M, Shibata A
First Department of Internal Medicine, Niigata University School of Medicine, Japan.
Am J Hematol. 1992 Sep;41(1):57-60. doi: 10.1002/ajh.2830410111.
A rare association of congenital afibrinogenemia and hereditary protein C deficiency is described in a 37-year-old female who suffered from ischemic necrosis in the left first toe. The diagnosis of afibrinogenemia was assessed by the absence of fibrinogen in clotting and immunological assays. The diagnosis of hereditary heterozygous type I protein C deficiency was based on the evidence of proportional decreases of activity and antigen of plasma protein C in the propositus, her mother, and two maternal aunts.
本文描述了一名37岁女性，其患有先天性无纤维蛋白原血症与遗传性蛋白C缺乏症这一罕见组合，并出现了左足第一趾缺血性坏死。通过凝血和免疫测定中缺乏纤维蛋白原评估无纤维蛋白原血症的诊断。遗传性杂合子I型蛋白C缺乏症的诊断基于先证者、其母亲和两位母系阿姨血浆蛋白C活性和抗原成比例降低的证据。
