title: Mesenteric venous thrombosis in hereditary protein C deficiency with the mutation at Arg169 (CGG-TGG).
abstract: 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.
authors.affiliation: Department of Internal Medicine, Minami Matsuyama Hospital, Matsuyama.
authors.forename: Atsuko
authors.initials: A
authors.lastname: Momoi
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Komura
authors.forename: Izumi
authors.initials: I
authors.lastname: Kumon
authors.forename: Masatake
authors.initials: M
authors.lastname: Tamai
authors.forename: Yoshinao
authors.initials: Y
authors.lastname: Tarumi
authors.forename: Jun
authors.initials: J
authors.lastname: Matsubara
authors.forename: Kagen
authors.initials: K
authors.lastname: Miyauchi
authors.forename: Jun
authors.initials: J
authors.lastname: Yamanouchi
authors.forename: Takaaki
authors.initials: T
authors.lastname: Hato
mesh_terms: D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008641:Mesenteric Vascular Occlusion / Q000097:blood / Q000209:etiology* / Q000235:genetics; D008642:Mesenteric Veins; D010375:Pedigree; D017354:Point Mutation; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency / Q000150:complications* / Q000235:genetics*; D013927:Thrombosis / Q000097:blood / Q000209:etiology* / Q000235:genetics
chemical_list: D011486:Protein C; D004247:DNA