Mesenteric venous thrombosis in hereditary protein c deficiency with the mutation at Arg169 (CGG→TGG)
Mesenteric venous thrombosis in hereditary protein c deficiency with the mutation at Arg169 (CGG→TGG)
复制标题
DOI：
10.2169/internalmedicine.42.110
复制
发表时间：
2003-01-01
影响因子：
1.2
通讯作者：
Hato, T
中科院分区：
文献类型：
--
作者：
Momoi, A;Komura, Y;Hato, T
一名39岁男性，无明显病史，因严重腹痛和黑黑而入院。计算机断层扫描显示肠系膜上静脉血栓形成。虽然立即开始溶栓和抗凝治疗，但出现了绞窄性肠梗阻的症状。因此进行剖腹手术，发现回肠坏死狭窄。患者及其父亲和姐妹的蛋白C水平较低。对他们的蛋白C基因进行直接测序分析，发现在激活肽裂解位点对应的密码子169处发生杂合突变，称为蛋白C Tochigi。
A 39-year-old man with no significant medical history was admitted to our hospital with severe abdominal pain and melena. Computed tomographic (CT) scans demonstrated superior mesenteric venous thrombosis. Although thrombolysis and anticoagulant therapy was started immediately, symptoms of strangulation ileus developed. Laparotomy was therefore performed and revealed necrotic stenosis of the ileum. The patient, his father and sisters showed low protein C levels. Direct sequencing analysis of their protein C gene revealed a heterozygous mutation at codon 169 corresponding to the cleavage site of the activation peptide, which was referred to as protein C Tochigi.