title: Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene.
abstract: A 34-year-old Japanese woman was admitted to our hospital complaining of developing bilateral pedal edema. Imaging studies led to a diagnosis of Budd-Chiari syndrome combined with internal jugular vein thrombus. We investigated the cause of thrombosis and found that the anticoagulant activity of protein C was decreased. Genetic analysis showed the presence of a c.125C>A (Arg42Ser) substitution in the protein C gene (PROC) of the proband, which generates an Arg42Ser mutation that replaces the scissile bond Arg42-Ala43 normally cleaved by a furin-like processing protease. Her father and younger brother also carried this mutation, although they had no evidence of thrombosis.
authors.affiliation: Department of Nephrology and Hypertension, Sumitomo Hospital, 5-3-20 Nakanoshima, Kitaku, Osaka 530-0005, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Muratsu
authors.forename: Atsuyuki
authors.initials: A
authors.lastname: Morishima
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Mizoguchi
authors.forename: Keiji
authors.initials: K
authors.lastname: Ataka
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yamamoto
authors.forename: Xinping
authors.initials: X
authors.lastname: Fan
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Miyata
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Sakaguchi