Elhajj Ihab I, Salem Ziad M K, Birjawi Ghina A, Taher Ali T, Soweid Assaad M
Department of Internal Medicine, American University of Beirut Medical Center (AUBMC), Beirut, Lebanon.
Hematol J. 2004;5(6):540-2. doi: 10.1038/sj.thj.6200560.
We herein report a 34-year-old man who was investigated for severe abdominal pain. Portal vein thrombosis (PVT) and mesenteric vein thrombosis (MVT) were diagnosed. An association with two predisposing factors for thrombosis was noted: (1) heterozygous factor II 20210G/A mutation and (2) homozygous methylenetetrahydrofolate reductase (MTHFR) 677C/T mutation with hyperhomocysteinemia. Our case is of particular interest because the patient reported herein, is homozygote for the MTHFR 677C/T mutation, while the only two other cases reported in the literature with similar gene mutations, were heterozygotes for the mutation.
我们在此报告一名34岁男性，因严重腹痛接受检查。诊断为门静脉血栓形成（PVT）和肠系膜静脉血栓形成（MVT）。注意到与两个血栓形成的易感因素相关：（1）杂合子因子II 20210G/A突变和（2）纯合子亚甲基四氢叶酸还原酶（MTHFR）677C/T突变伴高同型半胱氨酸血症。我们的病例特别有趣，因为本文报道的患者是MTHFR 677C/T突变的纯合子，而文献中报道的另外两例具有相似基因突变的病例是该突变的杂合子。
